Tag: Cancer Risks

ICARE Social Media Post February 2024

Risk-reducing mastectomy and breast cancer mortality in women with BRCA1/BRCA2

 

🔬 Exciting news! A recent study, which included ICARE participants, suggests the life-saving potential of preventive mastectomy for BRCA1 and BRCA2 carriers. 💪 This procedure significantly reduces the risk of developing breast cancer and may even decrease the risk of breast cancer-related mortality. The study found that after preventive mastectomy, the chance of dying from …

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Permanent link to this article: https://inheritedcancer.net/post22724/

ICARE Social Media Post February 2024

 Updates to NCCN Guidelines: Genetic/Familial Breast, Ovarian, and Pancreatic Post #1 

 

The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on February 12th, 2024! Updates include adding contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and other genes to the GENE-A (Cancer Risk Management) table 🧬 You can check out the full guidelines by creating a FREE account …

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Permanent link to this article: https://inheritedcancer.net/post21324/

ICARE Social Media Post February 2024  Updates to NCCN Guidelines: Genetic/Familial Breast, Ovarian, and Pancreatic Post #2 

The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on February 12th, 2024! Updates include expanded guidance about gynecologic cancers in BRCA1 and BRCA2, including:✓ Reproductive considerations✓ Non-surgical and surgical risk reduction✓ Salpingectomy✓ Hysterectomy considerations✓ HRT after risk-reducing removal of the ovaries You can check out the full …

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Permanent link to this article: https://inheritedcancer.net/post21324_2/

ICARE Social Media Post February 2024

 Germline EGFR Mutations and Familial Lung Cancer 

   

As featured in our Fall 2023 newsletter, inherited T790M EGFR mutations lead to a higher risk of lung cancer and are more common in the Southeast United States due to a ‘founder effect’. A study, in which our fellow Vanderbilt colleagues contributed, among individuals with this inherited cancer gene mutation found that more than half …

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Permanent link to this article: https://inheritedcancer.net/post21224/

ICARE Social Media Post January 2024

Hereditary Cancer Genetic Testing Educational Video

 

Want to learn more about genetic testing for inherited cancer? We use patient stories to give information about testing, its possible value to individuals and their family, and ways to access resources to learn more about getting tested. Check out the video here: http://tinyurl.com/genetictestingvideo To get free personalized information about hereditary cancer risk and testing, …

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Permanent link to this article: https://inheritedcancer.net/post11724/

ICARE Social Media Post January 2023

Colon Adenomas in Lynch Syndrome

New research reveals that individuals under the age of 50 with Lynch Syndrome often develop small, flat adenomas, particularly in the right (proximal) colon. This finding emphasizes the importance of rigorous screening, with a special focus on the proximal colon, among these young Lynch Syndrome patients 🩺🔍 Learn more at: https://www.dldjournalonline.com/article/S1590-8658(23)00946-5/fulltext Reference: Alric, et al. …

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Permanent link to this article: https://inheritedcancer.net/post11024/

ICARE Social Media Post January 2023

New ASCO Germline Testing in Patients With Breast Cancer Guidelines

The American Society of Clinical Oncology (ASCO) just released new guidelines for germline testing in patients with breast cancer, which include the following:🧬 BRCA1/2 testing should be offered to ALL patients diagnosed with breast cancer at or below age 65🧬 Testing for other hereditary cancer genes should also be offered based on personal and family …

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Permanent link to this article: https://inheritedcancer.net/post10524/

ICARE Social Media Post December 2023

BRCA1/2 carriers with Risk Reducing Salpingo-oophorectomy

A study among BRCA1/2 carriers who underwent a risk-reducing salpingo-oophorectomy (i.e., removal of both ovaries and fallopian tubes) found that the risk of peritoneal cancer increases if serous tubal intraepithelial carcinoma (STIC) is present – specifically, peritoneal cancer risk was 10.5% with STIC versus 0.3% without STIC at 5 years and 27.5% with STIC versus …

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Permanent link to this article: https://inheritedcancer.net/post121923/

ICARE Social Media Post December 2023

BRCA1/2: removing both ovaries and tubes to lower risks

A recent study among nearly 500 BRCA1/2 carriers who underwent breast cancer surgery found that survival was higher in those who chose preventive removal of their ovaries and fallopian tubes (in order to reduce cancer risks) compared to those who did not, particularly in BRCA1 carriers. Learn more at: https://tinyurl.com/5hdx6ytv Reference: Martelli, et al. JAMA …

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Permanent link to this article: https://inheritedcancer.net/post121323/

ICARE Social Media Post December 2023

Tamoxifen and Breast Cancer Risk in BRCA Mutations

In a recent study among female BRCA1/2 carriers, including ICARE participants, researchers explored the impact of using tamoxifen and/or raloxifene on breast cancer risk. 👩‍🔬 After almost 7 years of follow-up, only 10.9% of those in the tamoxifen/raloxifene group were diagnosed with breast cancer, compared to 14.3% of those in the non-user group. These findings …

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Permanent link to this article: https://inheritedcancer.net/post120523/

ICARE Social Media Post November 2023

Aerobic Exercise May Be Effective At Reducing Risk Of Colorectal Cancer In Patients With Lynch Syndrome

New research suggests regular, intense aerobic exercise may lower colorectal cancer risk in Lynch Syndrome patients 🏃‍♂️🧬 Learn more at: https://tinyurl.com/2s44828h Reference: Deng, et al. Clin Cancer Res. 2023; 29(21): 4361-4372. PMID: 37724990.

Permanent link to this article: https://inheritedcancer.net/post111523/

ICARE Featured Video November 2023

Pancreatic Cancer Screening

Below is a featured video from the November 2023 case conference, during which Bryson Katona, MD, PhD from Penn Medicine presents on pancreatic cancer screening. Please visit our YouTube channel to watch the full November conference, including valuable discussion from genetics professionals!

Permanent link to this article: https://inheritedcancer.net/video110923/

ICARE Featured Video October 2023

Management of Individuals with CHEK2 Mutations

Below is a featured video from the October 2023 case conference, during which Helen Hanson, MD from the Royal Devon University Healthcare NHS Foundation Trust and Douglas Stewart, MD from the National Cancer Institute present on the management of individuals with CHEK2 germline pathogenic variants. Please visit our YouTube channel to watch the full October …

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Permanent link to this article: https://inheritedcancer.net/video101223/

ICARE Social Media Post October 2023

BRCA2 & Melanoma Risk

Are BRCA2 carriers at higher risk for developing melanoma? As featured in our Fall 2023 newsletter, at present, we are not sure because results from different studies have been inconsistent. For instance, one study among 173 families with a BRCA2 mutation found a 2.6-fold risk of developing melanoma; however, another study of 139 Dutch families …

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Permanent link to this article: https://inheritedcancer.net/post100623/

ICARE Newsletter Fall 2023

Germline EGFR Mutations and Familial Lung Cancer

A study, in which our Vanderbilt colleagues Georgia Wiesner, MD, MS (geneticist) and Kelly Taylor, MS, LCGC (genetic counselor) participated, was recently published about the inherited T790M EGFR mutation. Mutations in this gene lead to a higher risk or lung cancer and were found to be more common in the Southeast United States where there …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-germline-egfr-mutations-and-familial-lung-cancer/

ICARE Newsletter Fall 2023

Genes Associated with Aggressive Prostate Cancer

A new study of almost 18,000 men with prostate cancer showed that inherited mutations in the BRCA2, ATM, and NBN genes were strongly associated with aggressive prostate cancer. Less strong associations were seen for inherited mutations in the MSH2, XRCC2, and MRE11A genes. The findings of this study suggest that knowing about inherited genes that …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-genes-associated-with-aggressive-prostate-cancer/

ICARE Newsletter Fall 2023

Are BRCA2 Carriers at Higher Risk for Melanoma?

At present, we are not sure because results from different studies have been inconsistent (1). For instance, one study among 173 families with a BRCA2 mutation found a 2.6-fold risk of developing melanoma (2); however, another study of 139 Dutch families with a BRCA2 mutation revealed a lower than general population risk for melanoma (3). …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-are-brca2-carriers-at-higher-risk-for-melanoma/

ICARE Newsletter Fall 2023

Fertility Treatment in BRCA Carriers: Breast Cancer Risk

A recent study among female BRCA carriers showed risk of breast cancer was not significantly raised through fertility treatment, which is reassuring. There remains a need to further study this question in more detail, for associations with breast cancers across different breast cancer subtypes, including breast cancers that are hormone-related and breast cancers that are …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-fertility-treatment-in-brca-carriers-breast-cancer-risk/

ICARE Newsletter Fall 2023

Newly released ACMG Clinical Practice Resource on CHEK2 Developed Through a Group of Worldwide Experts!

A person with a pathogenic variant in the CHEK2 gene may be at an increased risk for developing breast and other cancers. This ACMG Clinical Practice Resource, published in ACMG’s flagship journal, Genetics in Medicine, provides valuable information for healthcare providers caring for individuals with pathogenic variants in the CHEK2gene. This new ACMG Practice Resource …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-newly-released-acmg-clinical-practice-resource-on-chek2-developed-through-a-group-of-worldwide-experts/

ICARE Newsletter Fall 2023

Tamoxifen and Breast Cancer Risk in Women with a BRCA1 or BRCA2 Mutation

In a study of female BRCA carriers, including ICARE participants, those that used tamoxifen and/or raloxifenewere compared to those that did not. After an average follow-up time of almost 7 years, 10.9% of those in the tamoxifen/raloxifene group were diagnosed with breast cancer, compared to 14.3% in the group that did not use thesedrugs. This …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-tamoxifen-and-breast-cancer-risk-in-women-with-a-brca1-or-brca2-mutation/

ICARE Newsletter Fall 2023

BRCA1 and BRCA2 Carriers: Cancer Risks with Oral Contraceptive Use (UK)

Among female BRCA1 and BRCA2 carriers, a recent study found that oral contraceptive use is associated with:› Raised risk of breast cancer, but only in those using for over 5 years (relative risk: 1.25)› Lower risk of ovarian cancer (nearly cut in half) Park, et al. Carcinogenesis. 2022;43(3):231-242. PMID:

Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-brca1-and-brca2-carriers-cancer-risks-with-oral-contraceptive-use-uk/

ICARE Newsletter Fall 2023

Recommendations for Inherited Ovarian Cancer Genes: United Kingdom (UK)

Through consensus, management recommendations were developed in the UK for females with pathogenic variants inthe following inherited ovarian cancer genes: RAD51C, RAD51D, BRIP1, and PALB2. Hanson, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032. Social media post September 26th, 2023.Available at https://tinyurl.com/post9262023.

Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-recommendations-for-inherited-ovarian-cancer-genes-united-kingdom-uk/

ICARE Newsletter Fall 2023

National Comprehensive Cancer Network (NCCN) Guidelines Updates

Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic CancerReleased August 28th, 2023 (V1.2024) › Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)› Li-Fraumeni Syndrome: Significant updates to content (risks and care) (Pages 57-60, LIFR-A): Table added …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/

ICARE Social Media Post October 2023

What Are Established Cancer Genes?

There are many different inherited breast cancer genes, and different genes lead to different levels of breast cancer risk:

Permanent link to this article: https://inheritedcancer.net/post100423/

ICARE Social Media Post August 2023

  BRCA1/2 Outcomes: Metastatic Breast Cancer  

According to a recent study, germline BRCA1/2 status did not affect prognosis. However, outcomes differed by immunohistochemistry (IHC) subtype as follows: Use the link in bio to learn more! Reference: Mailliez, et al. Int J Cancer. 2023;152(5):921-931. PMID: 36161271.

Permanent link to this article: https://inheritedcancer.net/post83032/

ICARE Social Media Post August 2023

Cancer Risks: Inherited CDH1 Mutations  

A recent study found that inherited CDH1 mutations: These findings support expansion of lobular breast cancer-centered criteria. Use this link to learn more: http://bit.ly/3DJa7Cs Reference: Garcia-Pelaez, et al. Lancet Oncol. 2023 Jan;24(1):91-106. PMID: 36436516.

Permanent link to this article: https://inheritedcancer.net/post82223/

ICARE Social Media Post August 2023

Fertility Treatment in BRCA Carriers: Breast Cancer Risk

A study found that fertility treatment did not significantly raise the risk of breast cancer, which is reassuring. However, further research is required with regard to: Use the link in bio to learn more! Reference: Liu et al. Front Endocrinol (Lausanne). 2022;13:986477. PMID: 36176466.

Permanent link to this article: https://inheritedcancer.net/post81123/

ICARE Social Media Post August 2023

New Article – Cancer Risk Management

A recent study, which 𝗶𝗻𝗰𝗹𝘂𝗱𝗲𝗱 𝗜𝗖𝗔𝗥𝗘 𝗽𝗮𝗿𝘁𝗶𝗰𝗶𝗽𝗮𝗻𝘁𝘀, found that getting care according to guidelines depends on: Therefore, we need ways to improve knowledge among healthcare providers and trust in care among patients! Use this link to learn more: https://tinyurl.com/n26m4zys Reference: Dean, et al. Genet Med. 2023;100945. PMID: 37515473.

Permanent link to this article: https://inheritedcancer.net/post80723/

ICARE Social Media Post July 2023

Inherited Cancer Genes in Children: BRCA1/2, PALB2, ATM, CHEK2 , Lynch Genes

Recent study findings suggest that BRCA1/2, PALB2, ATM, CHEK2, and the Lynch Syndrome genes might confer reduced penetrance cancer risk among children. However, there are no adjustments to management or testing recommendations based on the level of risk (i.e., normally do not test children for conditions that primarily increase the risk of cancer in adulthood). …

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Permanent link to this article: https://inheritedcancer.net/post72123/

ICARE Social Media Post July 2023

BRCA1/2 carriers: Risks with Oral Contraceptives Use

Among female BRCA1 and BRCA2 carriers, a recent study found that oral contraceptive use is associated with an increased risk of breast cancer, but only among users who have been using them for more than five years, while ovarian cancer risk was nearly cut in half. Use the link in bio to learn more! Reference: …

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Permanent link to this article: https://inheritedcancer.net/post70623/

ICARE Social Media Post June 2023

Breast Cancer Risk Model: Predicting Risk over 10-year period

A new study found that mammographic features (density, microcalcifications, masses, and left-right breast asymmetries) predicted risks better than traditional lifestyle/familial risk-based risk models over a 10-year period. ⁠Use this link to learn more: https://bit.ly/443GDLd Reference: Eriksson et al. J Clin Oncol. 2023;JCO2201564. PMID: 36930854.

Permanent link to this article: https://inheritedcancer.net/post62823/

ICARE Social Media Post June 2023

Li-Fraumeni Syndrome/TP53 mutations

A recent study found that, regardless of a prior cancer diagnosis, there was no increased cancer worry after 1 year of full-body MRI surveillance in TP53 carriers. Further research is needed to evaluate these issues further. Use the link in bio to read the full article! Reference: Omran, et al. Cancer. 2023;129(6):946-955. PMID: 36601958.

Permanent link to this article: https://inheritedcancer.net/post62123/

ICARE Social Media Post June 2023

Inherited Gene Mutation in Those with Multiple Primary Cancers

Among patients with multiple primary cancers, the proportion with inherited cancer gene mutations increased with the number of primary cancers:• 2 cancers: 13.1%• 3 cancers: 15.9%• 4+ cancers: 18.0% Many of the double primaries, such as those of the breast, ovary, colorectum, and endometrium, occurred in women who would already be eligible for genetic testing. …

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Permanent link to this article: https://inheritedcancer.net/post60723/

ICARE Social Media Post June 2023

VUS Results: Rates of Reclassification in Inherited Cancer Genes

In a multicenter study evaluating reclassifications of variant of uncertain significance (VUS) results in breast, ovarian, and colorectal cancer susceptibility genes, it was discovered that of 3261 VUS results, 8.1% were reclassified. Of all the reclassified VUS results, 11.3% resulted in clinically actionable findings, and 4.6% led to changes in clinical management. The reclassification rates …

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Permanent link to this article: https://inheritedcancer.net/post60523/

ICARE Social Media Post May 2023

Women’s Health Week

In honor of National Women’s Health Week from May 14th to May 20th, we would like to encourage you to speak with your healthcare provider to make sure you are up-to-date on your cancer screenings, such as mammograms and colonoscopies, to help prevent cancer or find it early when it is easier to treat. Spread …

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Permanent link to this article: https://inheritedcancer.net/post51523/

ICARE Social Media Post May 2023

ATM breast cancer risks: High Risk c.7271T>G mutation

According to a recent study, while there was a reported 2-fold risk for breast cancer overall among ATM carriers, those with the c.7271T>G mutation had the highest risk. Use the link to learn more: https://bit.ly/40bKovj Reference: Hall et al. Cancer Prev Res (Phila). 2021;14(4):433-440. PMID: 33509806.

Permanent link to this article: https://inheritedcancer.net/post51123/

ICARE Social Media Post May 2023

USPSTF New Recommendation: Mammograms Start at Age 40

Yesterday the United States Preventive Services Task Force (USPSTF) published a new draft recommendation for all cisgender women and those assigned female sex at birth to do mammograms from ages 40 to 74, every two years. This change in recommendation is due to recent troubling trends, including an increase in the number of cancers diagnosed …

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Permanent link to this article: https://inheritedcancer.net/post51023/

ICARE Social Media Post May 2023

Lynch Syndrome: Skin Neoplasms

According to a recent study among individuals with Lynch Syndrome: Use the link in bio to learn more! Reference: Zhong et al. J Am Acad Dermatol. 2023;S0190-9622(23)00173-1. PMID: 36773823.

Permanent link to this article: https://inheritedcancer.net/post50623/

ICARE Social Media Post April 2023

Cancer Risks in Older Females with a BRCA Mutation

A recent study among over 2200 females (aged 50-75) with BRCA mutations, including ICARE participants, found 379 diagnosed cancers with breast and ovarian cancer being the most common cancers observed. Overall cancer risks were 49% in BRCA1 carriers and 43% in BRCA2 carriers, and cancer risks dropped to 9% among those who had preventative removal …

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Permanent link to this article: https://inheritedcancer.net/post42823/


ICARE Social Media Post April 2023

Prostate Cancer in Black Men: New Genetic Variants to Explain Higher Risks

Researchers identified 9 new genetic variants that may increase the risk of developing prostate cancer. This study highlights the importance of studying diverse populations. Read the full article at this link: https://www.sciencedirect.com/science/article/abs/pii/S0302283823025617 ⁠Reference:Chen et al. Eur Urol. 2023;S0302-2838(23)02561-7. PMID: 36872133.

Permanent link to this article: https://inheritedcancer.net/post42223/

ICARE Newsletter Spring 2023

Community Spotlight

In 1997 when I was a junior in college, my mom called to let me know that my father had been diagnosed with prostate cancer. Luckily for him, Prostate Specific Antigen (PSA) testing had recently started which resulted in early detection and subsequent prostatectomy. Due to his diagnosis and knowing prostate cancer is an inherited …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023span-stylecolor-56b0e4community-spotlight/

ICARE Newsletter Spring 2023
Breast Cancer Screening in Male BRCA1/2 Carriers

Generally, males with breast cancer present with advanced stage disease, thought to be due to a lack of screening. While data to determine performance of breast screening through mammograms for males at inherited risk is limited, recent studies suggest that the detection rate is similar or better than for females at general population risk.1,2,3 In …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-breast-cancer-screening-in-male-brca1-2-carriers/

ICARE Newsletter Spring 2023
Lynch Syndrome: Colorectal Cancer Risks Revisited

While there are higher cancer risks in BRCA mutation carriers starting in the mid-20s, a recent study focused on studying cancer risks in older females aged 50-75. Of the over 2000 females in the study, which included ICARE participants, 379 cancers were found between age 50 to 75 with risks of 49% in BRCA1 carriers …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-lynch-syndrome-colorectal-cancer-risks-revisited/

ICARE Newsletter Spring 2023

Lynch Syndrome: Colorectal Cancer Risks Revisited

A study of 381 individuals with Lynch Syndrome in New Zealand (98 with Lynch Syndrome-associated variants in MLH1, 159 in MSH2, 103 in MSH6, and 21 in PMS2) found that risks for colorectal cancer were lower in MSH6 and PMS2 carriers, suggesting that it might be possible to spread out colonoscopy intervals for these individuals.1 …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023/

ICARE Newsletter Spring 2023

Inherited Breast Cancer: Contralateral Breast Cancer Risks

While higher risks for contralateral breast cancer (CBC) have been known for BRCA1 and BRCA2, a newly published study demonstrated that the risk of CBC is also higher for female PALB2 and CHEK2 carriers; however, no elevated risks were found for ATM carriers (Table 1).1 This information is important to study, as it may be …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-inherited-breast-cancer-contralateral-breast-cancer-risks/

ICARE Newsletter Spring 2023

Melanoma Risk in Li-Fraumeni Syndrome

A recently published cohort study of 483 individuals with Li-Fraumeni Syndrome (LFS) identified 113 skin cancers. The cumulative incidence of a diagnosis of any skin cancer was 36.3% by the age of 70. Specifically for melanoma, the median age at diagnosis was 42 with a 7-fold increased incidence (SIR 7.28, 95% CI 4.50-11.13) compared with …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-melanoma-risk-in-li-fraumeni-syndrome/

Other Cancer Genetics Webinar April 2023

Communicating about Inherited Cancer Risk, Uncertainty, and Decision Making

Below you may watch an exciting presentation about communicating about inherited cancer risk, uncertainty, and decision making by Marleah Dean Kruzel, PhD from the University of South Florida.

Permanent link to this article: https://inheritedcancer.net/video40423/

ICARE Social Media Post March 2023

Metachronous Colorectal Cancer in Lynch Syndrome

Findings from a recent study: Risk factors for metachronous colorectal cancer included a history of colorectal polyps and having an MLH1 or MSH2 mutation, while protective factors included female sex and extended surgical resection. This highlights the importance of genetic testing and counseling for Lynch syndrome prior to surgery, which can influence surgical strategy and …

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Permanent link to this article: https://inheritedcancer.net/post31923/

ICARE Social Media Post March 2023

Melanoma in TP53 /Li-Fraumeni Syndrome

A new study found a 7-fold increased incidence of melanoma in individuals with TP53/Li-Fraumeni Syndrome compared with the general population:• Average age was 42• Risk to age 40 was 2.8%• Risk to age 60 was 7.8%• Risk to age 70 was 14.9% Learn more at the link below!https://pubmed.ncbi.nlm.nih.gov/35183552/ Reference: Hatton, et al. J Invest Dermatol. …

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Permanent link to this article: https://inheritedcancer.net/post30723/

ICARE Featured Video February 2023

CanRisk: Personalizing Cancer Risk Prediction

Below you may watch a featured video from the February 2023 Genetics Case Conference, which focused on CanRisk, a tool to estimate future breast and ovarian cancer risks, with guest expert Antonis Antoniou, PhD from the University of Cambridge.

Permanent link to this article: https://inheritedcancer.net/video21023/

ICARE Newsletter Spring 2022 

 Reducing Hereditary Cancer Act of 2021 

On February 16th, 2022, the Reducing Hereditary Cancer Act (S.3656) was introduced to the U.S. Senate with the goal of ensuring Medicare beneficiaries have coverage for potentially life-saving inherited cancer genetic counseling and testing as well as recommended screening and risk-reducing procedures, when medically necessary and appropriate. Currently, Medicare only covers genetic testing for beneficiaries …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-reducing-hereditary-cancer-act-of-2021/

ICARE Newsletter Spring 2022 

  BRCA1/2 Oral Contraceptives and Breast Cancer

A new study found that among BRCA1/2 carriers, oral contraceptive use strongly lowered cancer risk over one’s lifetime, even though at first, they raise risks of breast, ovarian, and endometrial cancer.Schrijver et al. J Natl Cancer Inst. 2022 Jan. PMID: 35048954. Social media post February 15th, 2022. Available at:https://tinyurl.com/post21522.

Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-brca1-2-oral-contraceptives-and-breast-cancer/

ICARE Newsletter Spring 2022 

  BRCA1/2 and Male Cancer Risks 

A recent international study found that male BRCA1 and BRCA2 carriers have a higher risk for breast, pancreatic, and stomach cancer. Additionally, male BRCA2 carriers were found to have higher risks for prostate cancer. See the below table for the specific risk levels: Li et al. J Clin Oncol. 2022 Jan. PMID: 35077220. Social media …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-brca1-2-and-male-cancer-risks/

ICARE Newsletter Spring 2022 

 Li-Fraumeni Syndrome and Cancer Risks 

A new study reported on differences in the TP53 mutations between patients who met vs those who did not meet Li-Fraumeni Syndrome (LFS) testing criteria. Several variants were identified multiple times in those who did and did not meet LFS clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282. Other variants were exclusively found in those …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-li-fraumeni-syndrome-and-cancer-risks/

ICARE Newsletter Spring 2022 

 CDH1 and Stomach Cancer 

A recent study of women with hereditary lobular breast cancer due to CDH1 mutations found high rates ofundetected stomach cancer (with signet ring features). The findings suggested that among CDH1 carriers, there werevery high risks for stomach cancer, even when family history of stomach cancer was absent.Gamble et al. JAMA Surg. 2021 Oct. PMID: 34643667. …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-cdh1-and-stomach-cancer/

ICARE Newsletter Spring 2022 

  ATM and Pancreatic Cancer

A new article reported that pancreatic cancer risks are morethan 6-fold higher in individuals with an ATM mutation.Pancreatic cancer risks by age were:› 1.1% by age 50› 6.3% by age 70› 9.5% by age 80Hsu, et al. JAMA Oncol. 2021 Sep. PMID: 34529012. Social media post October 1st, 2021. Available at: https://tinyurl.com/post100121.

Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-atm-and-pancreatic-cancer/

ICARE Newsletter Fall 2022 

 ATM -associated Cancer Risks 

Female ATM carriers have approximately a 2-fold risk, on average, for developing breast cancer, which was confirmed through two large studies that reported risks (odds ratio) as 2.10 (95% CI, 1.71–2.57)1 and 1.82 (95% CI, 1.46–2.27). Both studies reported an association with ER+ tumors. Another recent study estimated breast cancer risks to be 13% by …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-atm-associated-cancer-risks/

ICARE Newsletter Fall 2022 

 Which Genes Are Confirmed as ‘Inherited Breast Cancer Genes’? 

There were two large studies published early last year that evaluated which genes raise risks for breast cancer, including breast cancer patients from many centers worldwide, representing the largest available datasets to look at this question. These efforts were led by the worldwide Breast Cancer Association Consortium (BCAC)1 and the United States-based CARRIERS consortium. The …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-which-genes-are-confirmed-as-inherited-breast-cancer-genes/

ICARE Newsletter Fall 2022 

  BRCA1/2 Cancer Risk Updates

During preventive surgery to remove the ovaries and fallopian tubes (called a risk-reducing salpingo-oophorectomy orRRSO), a new study found that the detection of tubal intraepithelial carcinoma predicts the risk of later peritonealcancer.1 These findings show the importance of timely RRSO and the need to do a careful pathology exam of the ovaries and fallopian tubes …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-brca1-2-cancer-risk-updates/

Newsletter Fall 2021

Modifying Risks in BRCA Carriers

Breast cancer risks: A risk-reducing salpingo-oophorectomy (i.e., removal of both ovaries and fallopian tubes) in BRCA carriers was associated with a reduced risk of breast cancer within five years after surgery, with evidence of longer-term risk reduction among those with BRCA1 variants.1 Ovarian cancer risks: A new study reported that the use of oral contraceptives …

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Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-modifying-risks-in-brca-carriers/

Newsletter Fall 2021

Breast Cancer Risks Remain High in PALB2 & BRCA

A new study found that lifetime breast cancer risk is 15% or more in female BRCA1, BRCA2, and PALB2 carriers over age 65. This level of risk warrants consideration for continuing breast MRI.1 These results are similar to those of a study that included ICARE participants,2 which reported the risk of developing breast cancer remains …

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Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-breast-cancer-risks-remain-high-in-palb2-brca/

Newsletter Fall 2021

Prostate Cancer and PALB2

A new Polish study based on two specific founder mutations in PALB2 reported that mutations in this gene may predispose to an aggressive, lethal form of prostate cancer.1 The investigators studied PALB2 prostate cancer risks, characteristics, and outcomes in almost 5,500 men with prostate cancer and compared them to over 8,000 cancer-free adults from Poland. …

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Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-prostate-cancer-and-palb2/

Newsletter Fall 2021

PALB2 : Increasingly Recognized as the Third Most Important Inherited Breast Cancer Gene

In May 2021, a clinical practice resource was released by the American College of Medical Genetics and Genomics (ACMG) from a global team of cancer genetics specialists (see figure) to help guide the care of PALB2 carriers.1 PALB2 is considered the third most important breast cancer risk gene, after BRCA1 and BRCA2, with PALB2 carriers …

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Permanent link to this article: https://inheritedcancer.net/div-classboxedspan-stylecolor-whiteh6newsletter-fall-2021-h6-span-divbrcenterh4span-stylecolor-56b0e4-ipalb2-i-increas/

ICARE Social Media Post January 2023

New Contralateral Breast Cancer Risk Prediction Model for BRCA1/2 Carriers

A new risk prediction model was developed to assess the risk of contralateral breast cancer in BRCA1/2 carriers. Risks are higher with:• Younger age at first breast cancer• Close family member with breast and/or ovarian cancer• Mutation located near the 3′ region of the gene Risks are lower with:• Endocrine therapy Use this link in …

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Permanent link to this article: https://inheritedcancer.net/post11423/

ICARE Social Media Post December 2022

Negative or Uninformative Test Results

A new study demonstrates the importance of retesting patients with previously uninformative cancer genetics evaluations, especially in high risk individuals. Read the full article at this link for more info: https://pubmed.ncbi.nlm.nih.gov/34545504/ 🔗⁠ Reference: Dettwyler et al. Fam Cancer. 2022; DOI: 10.1007/s10689-021-00276-8. PMID: 34545504

Permanent link to this article: https://inheritedcancer.net/post121322/

ICARE Social Media Post December 2022

Bilateral Mastectomy in BRCA1/2, PALB2, ATM, & CHEK2 Carriers

A recent study including data from ICARE participants found similar rates of bilateral mastectomy across high (BRCA1, BRCA2, PALB2) and moderate (ATM, CHEK2) penetrance genes. The high rates of bilateral mastectomies seen in those with moderate penetrance genes is concerning for overtreatment. Use the link to learn more: https://jamanetwork.com/journals/jamaoncology/fullarticle/2797978?guestAccessKey=fe9a3a20-8623-4feb-a0c5-315ad43a8fcb&utm_source=jps&utm_medium=email&utm_campaign=author_alert-jamanetwork&utm_content=author-author_engagement&utm_term=1m Reference: Reid et al. Receipt of …

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Permanent link to this article: https://inheritedcancer.net/post120822/

ICARE Social Media Post November 2022

Cancer Risks: CHEK2

A newly published study reports that the type of CHEK2 mutation leads to different cancer risks. Read the full article at this link: https://jamanetwork.com/journals/jamaoncology/fullarticle/2796767 Reference: Bychkovsky BL, et al. JAMA Oncol. 2022 Sep 22;e224071. PMID: 36136322.

Permanent link to this article: https://inheritedcancer.net/post112122-2/

ICARE Social Media Post October 2022

CanRisk Tool

Have you heard of the CanRisk Tool?The CanRisk Tool provides health care professionals a user-friendly resource to carry out breast and ovarian cancer risk predictions. It is the first freely accessible cancer risk prediction program!Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/33335023/ Reference: Carver et al. Cancer Epidemiol Biomarkers Prev. 2021 Mar;30(3):469-473. PMID: 33335023.

Permanent link to this article: https://inheritedcancer.net/post100722-2/

ICARE Featured Video October 2022

CanVar-UK Variant Interpretation Platform Updates

Below you may watch a featured video from the October 2022 Genetics Case Conference in which Clare Turnbull, MD, PhD discusses recent updates to the CanVar-UK Variant Interpretation Platform.

Permanent link to this article: https://inheritedcancer.net/video100622_2/

ICARE Social Media Post October 2022

Ovarian Cancer Risks: Weight Gain in BRCA1/2 Carriers

A study found that adult weight gain is a risk factor for ovarian cancer. This highlights the importance for BRCA1/2 carriers to maintain a healthy weight throughout adulthood.⁠Read the full article to learn more! ⁠https://pubmed.ncbi.nlm.nih.gov/34426412/⁠Reference: Kim et al. Cancer Epidemiol Biomarkers Prev. 2021 Nov;30(11):2038-2043. PMID: 34426412.

Permanent link to this article: https://inheritedcancer.net/post100122/

ICARE Social Media Post September 2022

Breast cancer risks: BRCA1/2 carriers with risk reducing salpingo-oophorectomy (RRSO)

Three recent studies found varying results when evaluating breast cancer risk in BRCA1/2 carriers with risk-reducing salpingo-oophorectomy (RRSO). Use these links to learn more: https://pubmed.ncbi.nlm.nih.gov/31948486/ https://pubmed.ncbi.nlm.nih.gov/33630024/ https://pubmed.ncbi.nlm.nih.gov/35216860/

Permanent link to this article: https://inheritedcancer.net/post92722/

ICARE Social Media Post September 2022

Hormonal Replacement Therapy (HRT) in BRCA1 and BRCA2 carriers

A recent study showed hormone replacement therapy (HRT) is reasonable to offer to BRCA1 and BRCA2 carriers who underwent risk-reducing salpingo-oophorectomy (RSSO). Read the full article at this link: https://pubmed.ncbi.nlm.nih.gov/32143914/Reference: Mills, et al. Gynecol Oncol; 2020 Jun;157(3):706-710. PMID: 32143914.

Permanent link to this article: https://inheritedcancer.net/post2922/

ICARE Social Media Post September 2022

Bilateral Oophorectomy: Breast Cancer Risks in BRCA1 Carriers

A recent study, including ICARE participants, found preventive removal of the ovaries does not reduce breast cancer risk in BRCA1 carriers. These findings highlight that study bias can influence results.Read the full article at this link: https://pubmed.ncbi.nlm.nih.gov/35477169/⁠Reference: Kotsopoulos et al. Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1351-1358. PMID: 35477169.

Permanent link to this article: https://inheritedcancer.net/icare-social-media-post-september-2022-bilateral-oophorectomy-breast-cancer-risks-in-brca1-carriers/

ICARE Social Media Post September 2022
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Risk of Ovarian Cancer In BRCA1/2 Carriers: Oral Contraceptives and Implants

A new study suggests oral contraceptives and implants lower risk of ovarian cancer in BRCA1/2 carriers.Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/35063280/Reference: Xia et al. Gynecol Oncol. 2022;164(3):514-521. doi:10.1016/j.ygyno.2022.01.014. PMID: 35063280.

Permanent link to this article: https://inheritedcancer.net/post92122/

ICARE Social Media Post September 2022

ATM: Breast Cancer Risks

A recent study found that even though ATM has been clearly identified as a breast cancer risk gene with an estimated risk of 13% up to age 80, variant-specific penetrance estimates are needed to guide risk management plans for those with pathogenic mutations.Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/35365198/Reference: Renault et al. Breast Cancer …

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Permanent link to this article: https://inheritedcancer.net/post91922/

ICARE Social Media Post August 2022

ATM: Breast Cancer Risks

ATM variants are linked to an increased risk of breast cancer, with the ATM V2424G variant causing the highest risks and ATM D1853V, L546V, and S707P variants being the least predictive.Read the full article here: https://pubmed.ncbi.nlm.nih.gov/33402103/Reference: Moslemi, et al. BMC Cancer. 2021 Jan 5;21(1):27. PMID: 33402103.

Permanent link to this article: https://inheritedcancer.net/post81922/

ICARE Social Media Post August 2022

Ovarian Cancer Risks: Aspirin

A new report found that regular aspirin use was associated with a 13% reduction in ovarian cancer risk. Read the full article at the link: https://ascopubs.org/doi/abs/10.1200/JCO.21.01900Reference: Hurwitz et al. J Clin Oncol. 2022. PMID: 35867953.

Permanent link to this article: https://inheritedcancer.net/post81222/

ICARE Featured Video August 2022

Total Body MRI Screening Protocol in Li-Fraumeni Syndrome Patients

Below you may watch a featured video from the August 2022 Genetics Case Conference focused on total body MRI screening protocol in Li-Fraumeni Syndrome patients with guest expert Joanna Shechtel, MD.

Permanent link to this article: https://inheritedcancer.net/video81122/

ICARE Social Media Post June 2022

ATM: High and Moderate Risks for Multiple Cancers

A recent study found that pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with multiple cancers. Specifically, moderate-to-high risks for pancreatic, prostate, gastric, and invasive ductal breast cancers, and low-to-moderate risks for ductal carcinoma in situ, male breast cancer, ovarian cancer, colorectal cancer, and melanoma.This provides more data to guide risks and …

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Permanent link to this article: https://inheritedcancer.net/post62122/

ICARE Social Media Post May 2022

BRCA Carriers with Risk-Reducing Salpingo-oophorectomy: Risk of Peritoneal Carcinomatosis

A new study found that among BRCA1/2 carriers, the presence of tubal intraepithelial carcinoma during risk-reducing salpingo-oophorectomy (i.e., preventive surgery to remove the ovaries and fallopian tubes) predicts the risk of later peritoneal cancer. These findings demonstrate:the importance of timely risk-reducing removal of the ovaries and fallopian tubesthat it is VERY important to have a …

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Permanent link to this article: https://inheritedcancer.net/post52422/

ICARE Social Media Post May 2022

Breast Cancer Genes in Women of African Ancestry

A recent study in women of African ancestry confirmed genes previously identified to have associations with breast cancer risk (BRCA1, BRCA2, PALB2, ATM, TP53, NF1, and CHEK2) and provided new evidence of breast cancer risk for RAD51C and RAD51D, which was identified previously in European ancestry populations.Check out the full article at 👇https://pubmed.ncbi.nlm.nih.gov/35396981/Reference: Díaz-Zabala, et …

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Permanent link to this article: https://inheritedcancer.net/post51722/

ICARE Featured Video May 2022

CanVar: A Robust Variant Curation Tool Developed in the UK

Below you may watch a featured video from the May 2022 Genetics Case Conference focused on CanVar with guest expert Clare Turnbull, MD, PhD.

Permanent link to this article: https://inheritedcancer.net/video51222/

ICARE Social Media Post May 2022

CDKN2A and Melanoma

Did you know that CDKN2A mutations are found in 35-43% of families with three or more family members with melanoma?Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/33945383/Reference: Pissa et al. Acta Oncol. 2021 Jul;60(7):888-896. PMID: 33945383.

Permanent link to this article: https://inheritedcancer.net/post50622/

Other Cancer Genetics Webinar May 2022

Addressing Global Implementation of Genomic Cancer Risk Assessment

Below you may watch an exciting presentation by Jeffrey Weitzel, MD, in which he discusses global implementation of genomic cancer risk assessment.

Permanent link to this article: https://inheritedcancer.net/video50322/

ICARE Featured Video April 2022

Polygenic Risk Scores

Below you may watch a featured video from the April 2022 Genetics Case Conference focused on polygenic risk scores with guest expert Marc Tischkowitz, MD, PhD.

Permanent link to this article: https://inheritedcancer.net/video41422/

ICARE Social Media Post March 2022

BRCA1/2: Asian Breast Cancer Patients

A new study highlights the importance of customizing mutation carrier prediction models in order to improve the accuracy of predicting the likelihood of carrying a BRCA mutation in Asian breast cancer patients.Read the article for more info!https://ascopubs.org/doi/abs/10.1200/JCO.21.01647?cid=DM9826&bid=143994923Reference: Hong Ang et al. J Clin Oncol. 2022 Feb 10;JCO2101647. PMID: 35143328.

Permanent link to this article: https://inheritedcancer.net/post32522/

ICARE Featured Video March 2022

Inherited Colorectal Cancer & Polyposis Syndromes

Below you may watch a featured video from the March 2022 Genetics Case Conference focused on inherited colorectal cancer and polyposis syndromes with guest expert Heather Hampel, MS, LGC.

Permanent link to this article: https://inheritedcancer.net/video31022/

Other Cancer Genetics Webinar March 2022

Pediatric Inherited Cancer Predisposition

Below you may watch an exciting presentation about inherited pediatric cancer by Daniel Benedetti, MD from Monroe Carell Jr. Children’s Hospital at Vanderbilt.

Permanent link to this article: https://inheritedcancer.net/video30722/

ICARE Social Media Post February 2022

BRCA1/2 Cancer Risks: Oral Contraceptives

A new study found that among BRCA1/2 carriers oral contraceptive use strongly decreases lifetime cancer risk, despite an 𝗶𝗻𝗶𝘁𝗶𝗮𝗹 increase in breast, ovarian, and endometrial cancer risk. Read the full article to learn more!https://pubmed.ncbi.nlm.nih.gov/35048954/Reference: Schrijver et al. J Natl Cancer Inst. 2022 Jan 20;djac004. PMID: 35048954

Permanent link to this article: https://inheritedcancer.net/post21522/

ICARE Social Media Post February 2022

Polygenic Risk Scores: BRCA1, BRCA2, PALB2, CHEK2 & ATM

Permanent link to this article: https://inheritedcancer.net/post20822/

ICARE Social Media Post January 2022

Male Cancer Risks: BRCA1 & BRCA2

A new study found that male BRCA1/2 carriers have a higher risk for breast, pancreatic, and stomach cancer. Additionally, male BRCA2 carriers were found to have higher risks for prostate cancer. Read the full Journal of Clinical Oncology article to learn more!https://ascopubs.org/doi/full/10.1200/JCO.21.02112Reference: Li et al. J Clin Oncol. 2022 Jan 25;JCO2102112. PMID: 35077220.

Permanent link to this article: https://inheritedcancer.net/post12822/

ICARE Social Media Post January 2022

BRCA Breast Cancer Risks After Age 60

A study that included ICARE participants reported the risk of developing breast cancer remains high after age 60 in both BRCA1 and BRCA2 carriers. Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/33423179/Reference: Stjepanovic et al. Breast Cancer Res Treat. 2021 Jun;187(2):515-523. PMID: 33423179

Permanent link to this article: https://inheritedcancer.net/post12522/

ICARE Featured Video January 2022

JScreen: At-Home Genetic Testing and Education

Below you may watch a featured video from the January 2022 Genetics Case Conference, in which Estie Rose, MS, LCGC presented on JScreen, a non-profit offering genetic testing and education.

Permanent link to this article: https://inheritedcancer.net/video11322/

ICARE Social Media Post January 2022

Gastric Cancer Risks: CDH1

Read the 𝘑𝘈𝘔𝘈 𝘚𝘶𝘳𝘨𝘦𝘳𝘺 article to learn morehttps://jamanetwork.com/journals/jamasurgery/article-abstract/2785097Reference: Gamble et al. JAMA Surg. 2021 Oct 13;e215118. PMID: 34643667.

Permanent link to this article: https://inheritedcancer.net/post11122/

ICARE Social Media Post December 2021

Breast Cancer Risk Prediction Model for Black Women

 

A new breast cancer model has been developed and validated for breast cancer risk prediction, specifically for Black women in the United States. This is in contrast to prior models, which were developed in White women, and used in Black women (which UNDERPREDICTED risks). This is a notable advance as we strive towards health equity …

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Permanent link to this article: https://inheritedcancer.net/post122321/

ICARE Social Media Post December 2021

Li-Fraumeni Syndrome Cancer Risks

• Several variants were identified multiple times in those who did and did not meet Li-Fraumeni Syndrome clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282• Other variants were exclusively found in those in the Li-Fraumeni Syndrome group: p.M133T, p.P152L, p.C275Y, p.C275, p.R337C, p.R342, and p.R342P• One variant was exclusively found in patients with attenuated Li-Fraumeni …

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Permanent link to this article: https://inheritedcancer.net/post122121/

ICARE Social Media Post November 2021

Variation in Colorectal Cancer Risk in Families With Lynch Syndrome

For more information, read the Lancet Oncology article led by The International Mismatch Repair Consortium at the below link 👇https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00189-3/fulltext Reference: International Mismatch Repair Consortium. Lancet Oncol. 2021 Jul;22(7):1014-1022. PMID: 34111421.

Permanent link to this article: https://inheritedcancer.net/post113021/

ICARE Social Media Post October 2021

Pancreatic Cancer Risks: ATM

For more information, read the full article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2783767 Reference: Hsu, et al. JAMA Oncol. 2021 Sep 16:e213701. PMID: 34529012.

Permanent link to this article: https://inheritedcancer.net/post100121/

ICARE Featured Video October 2021

SMARCA4

Below you may watch a featured video from the October 2021 Genetics Case Conference, which focused on SMARCA4 with guest expert William Foulkes, MBBS, PhD from McGill University.

Permanent link to this article: https://inheritedcancer.net/video100721/

Other Cancer Genetics Webinar September 2021

Genetic Counseling in the Context of Paired Germline/Somatic Testing

Below you may watch an exciting presentation about germline and tumor testing for ovarian cancer by Leigha-Senter Jamieson, MS, CGC from The Ohio State University, in which she considers how the role of genetic counselors may expand to support patients in partnership with treating gynecologic oncologists.

Permanent link to this article: https://inheritedcancer.net/video90821/

ICARE Social Media Post August 2021

Breast Cancer Risks: BRCA1/2 & PALB2

For more information, view the article at 👇https://ascopubs.org/doi/full/10.1200/JCO.21.00531

Permanent link to this article: https://inheritedcancer.net/post82421/

ICARE Social Media Post August 2021

New York Times PALB2 Article

A New York Times article just published focused on the importance of PALB2 as a breast cancer gene (https://www.nytimes.com/…/breast-cancer-palb2-brca.html), which referenced our recent article focused on managing PALB2 carriers sponsored by ACMG – American College of Medical Genetics and Genomics, and developed through a worldwide collaboration (including: Marc Tischkowicz, Judith Balmana, Will Foulkes, Paul James, …

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Permanent link to this article: https://inheritedcancer.net/post81921/

ICARE Social Media Post August 2021

Oral Contraceptive Use & Reduced Ovarian Cancer Risk in BRCA Carriers

For more information, view the AJOG article by Lieske Schrijver and colleagues at the following link: https://www.ajog.org/article/S0002-9378(21)00038-7/fulltext

Permanent link to this article: https://inheritedcancer.net/post80621/

ICARE Social Media Post July 2021

Inherited Cancer in Colorectal Cancer Patients

For more information, view the article at: https://ascopubs.org/doi/10.1200/PO.20.00525

Permanent link to this article: https://inheritedcancer.net/post72721/

ICARE Social Media Post July 2021

Lifestyle & Colorectal Cancer Risk

For additional information, read the article at the link below: https://academic.oup.com/ajcn/article-abstract/113/4/810/6155851

Permanent link to this article: https://inheritedcancer.net/post72021/

ICARE Social Media Post July 2021

PALB2 & Prostate Cancer

For more information, read the article available at: https://www.nature.com/articles/s41416-021-01410-0

Permanent link to this article: https://inheritedcancer.net/post70221/

ICARE Social Media Post June 2021

A Population-Based Study of Genes Previously Implicated in Breast Cancer

For additional information, read the article at the following link: https://www.nejm.org/doi/10.1056/NEJMoa2005936

Permanent link to this article: https://inheritedcancer.net/post62521/

ICARE Featured Video June 2021

PALB2

Below you may watch a featured video from the June 2021 Genetics Case Conference, which focused on PALB2 with guest experts Marc Tischkowitz, MD, PhD from the University of Cambridge in Cambridge, England and Steven Narod, MD, FRCPC, FRSC from the Women’s College Research Institute in Toronto, Canada.

Permanent link to this article: https://inheritedcancer.net/video61021/

ICARE Social Media Post June 2021

Actionable Pathogenic Variants Among Caribbean-Born People With Breast or Ovarian Cancer

For more information, view the article at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2776805

Permanent link to this article: https://inheritedcancer.net/post61521/

ICARE Social Media Post May 2021

CDKN2A: Cancer Risks and Risk Management

𝘐𝘯 𝘳𝘦𝘤𝘰𝘨𝘯𝘪𝘵𝘪𝘰𝘯 𝘰𝘧 𝘴𝘬𝘪𝘯 𝘤𝘢𝘯𝘤𝘦𝘳 𝘢𝘸𝘢𝘳𝘦𝘯𝘦𝘴𝘴 𝘮𝘰𝘯𝘵𝘩, we present cancer risks and management for 𝗖𝗗𝗞𝗡𝟮𝗔 per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Version 2.2021 𝗠𝗲𝗻 & 𝗪𝗼𝗺𝗲𝗻:Melanoma risk: Elevated at 28-67% – Recommend annual full-body skin exam, regular self-examinations, and routine sun protective behaviors. Pancreatic cancer risk: >15% – Consider MRI/MRCP and/or endoscopic …

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Permanent link to this article: https://inheritedcancer.net/post51321/

ICARE Social Media Post April 2021

Reducing Hereditary Cancer Act

The 𝙍𝙚𝙙𝙪𝙘𝙞𝙣𝙜 𝙃𝙚𝙧𝙚𝙙𝙞𝙩𝙖𝙧𝙮 𝘾𝙖𝙣𝙘𝙚𝙧 𝘼𝙘𝙩 is being proposed to ensure Medicare beneficiaries have access to inherited cancer genetic testing, increased screening, and risk-reducing procedures, when medically necessary & appropriate. Under current Medicare guidelines, only those with “signs, symptoms, complaints, or personal histories of disease” meet the criteria for medical services coverage. Genetic testing is only …

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Permanent link to this article: https://inheritedcancer.net/post43021/

ICARE Social Media Post April 2021

Komen Disparities Resource

Check out Susan G. Komen’s “𝗞𝗻𝗼𝘄 𝗬𝗼𝘂𝗿 𝗛𝗶𝘀𝘁𝗼𝗿𝘆, 𝗞𝗻𝗼𝘄 𝗬𝗼𝘂𝗿 𝗥𝗶𝘀𝗸” resource, which outlines disparities in breast cancer, how to understand your risk, and recommended screening and management practices. To learn more, please visit: 👉 https://www.komen.org/about-komen/our-impact/breast-cancer/health-equities-initiative/know-your-history/ 👉 https://blog.komen.org/news/black-history-month/

Permanent link to this article: https://inheritedcancer.net/post42021/

ICARE Featured Video April 2021

Multiple Primary Tumors

Below you may watch a featured video from the April 2021 Genetics Case Conference, which focused on multiple primary tumors with guest expert James Whitworth, MD, PhD from the University of Cambridge.

Permanent link to this article: https://inheritedcancer.net/video40921/

ICARE Social Media Post March 2021

STK11: Cancer Risks and Risk Management

Gene: STK11 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Women:Breast cancer risk: Elevated at 40-60% – Recommend annual mammogram and breast MRI starting at around age 30. Ovarian tumor risk (typically benign sex cord/Sertoli cell tumors): Elevated at 18-21% – Recommend annual pelvic exam starting at …

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Permanent link to this article: https://inheritedcancer.net/post33021/

ICARE Social Media Post March 2021

MUTYH: Cancer Risks and Risk Management

Gene: MUTYH Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Men & women with two mutations in MUTYH:Colon cancer risk: High risk – Recommend colonoscopy every 1-2 years beginning at age 25-30; colectomy considered based on polyp burden and age. Duodenal cancer risk: Elevated – Consider baseline …

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Permanent link to this article: https://inheritedcancer.net/post32321/

ICARE Social Media Post March 2021

APC: Cancer Risks and Risk Management

𝗚𝗲𝗻𝗲: 𝗔𝗣𝗖 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 𝗠𝗲𝗻 & 𝗪𝗼𝗺𝗲𝗻:𝘈𝘗𝘊 mutation leading to classic form of Familial Adenomatous Polyposis (FAP):Colorectal cancer risk: >99% if untreated – Treatment is based on polyp burden and includes proctocolectomy (with subsequent endoscopic screening of the ileal pouch) or …

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Permanent link to this article: https://inheritedcancer.net/post31621/

ICARE Social Media Post March 2021

Colorectal Cancer Risk Assessment Tool

In honor of 𝗖𝗼𝗹𝗼𝗿𝗲𝗰𝘁𝗮𝗹 𝗖𝗮𝗻𝗰𝗲𝗿 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗠𝗼𝗻𝘁𝗵, we wanted to highlight the National Cancer Institute’s Colorectal Cancer Risk Assessment Tool (CCRAT) designed for healthcare providers to use with select patients to estimate the risk of colorectal cancer. You may access the tool at https://ccrisktool.cancer.gov

Permanent link to this article: https://inheritedcancer.net/post31221/

ICARE Featured Video March 2021

Inherited Colorectal Cancer

Below you may watch a featured video from the March 2021 Genetics Case Conference, which focused on inherited colorectal cancer with guest expert Georgia Wiesner, MD from Vanderbilt University Medical Center.

Permanent link to this article: https://inheritedcancer.net/video31121/

ICARE Social Media Post March 2021

Three Articles: Breast Cancer Risks

For additional information about the: 》US-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 》International study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 》Accompanying editorial: https://www.nejm.org/doi/full/10.1056/NEJMe2035083

Permanent link to this article: https://inheritedcancer.net/post30921/

ICARE Featured Video February 2021

DICER1

Below you may watch a featured video from the February 2021 Genetics Case Conference, which focused on DICER1 with guest expert Douglas Stewart, MD from the National Cancer Institute.

Permanent link to this article: https://inheritedcancer.net/video21121/

ICARE Newsletter Winter 2021

Inherited Breast Cancer Genes: Two New Important Articles Just Released

Results of a United States (U.S.)-based study1 and an international study2 were released in January in the New England Journal of Medicine and provide a much clearer picture about the role of inherited breast cancer genes in women without a family history of cancer, and how common these genes may be in the general population. …

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Permanent link to this article: https://inheritedcancer.net/2nlw2021/

ICARE Newsletter Winter 2021

Learning You Have a Mutation in an Inherited Cancer Gene: What’s Next?

The benefits achieved through genetic testing for inherited cancer only happen by acting upon the results. This can be through guiding cancer treatment, receiving appropriate cancer risk management strategies, and sharing results with at-risk family members so they too can benefit from this information. We recently reported on results of our study, made possible through …

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Permanent link to this article: https://inheritedcancer.net/6nlw2021/

ICARE Newsletter Winter 2021

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

An old study back in 1999 suggested that CHEK2 may be a Li-Fraumeni Syndrome gene.1 However, a subsequent report in 2002 clearly refuted this original assertion, and based on additional data and analysis concluded that “… it is very unlikely that CHEK2 is an alternative Li-Fraumeni Syndrome susceptibility gene.”2 Another subsequent report in 2008 based …

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Permanent link to this article: https://inheritedcancer.net/4nlw2021/

ICARE Newsletter Winter 2021

Ask the Expert

In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Rebecca Smith, PhD, Laboratory Director at Genetics Associates, Inc. with over 20 years of experience in biomedical research and 7 years of experience in clinical laboratory diagnostics. If you have a question …

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Permanent link to this article: https://inheritedcancer.net/9nlw2021/

ICARE Social Media Post February 2021

ICARE Winter 2021 Newsletter

The ICARE Winter 2021 Newsletter is now available! Check out this latest edition for recent research and clinical updates, a Q&A with a genomics expert, and an inspiring community spotlight piece. You can read the newsletter by visiting: https://inheritedcancer.net/wp-content/uploads/ICARE-2021-Winter-Newsletter.pdf. Please feel free to share with family members, friends, and/or your healthcare providers.

Permanent link to this article: https://inheritedcancer.net/post20921/

ICARE Social Media Post February 2021

Strategies to Enhance the Identification of Hereditary Breast Cancer Gene Carriers

Check out a recent review article led by the ICARE team, published in 𝘌𝘹𝘱𝘦𝘳𝘵 𝘙𝘦𝘷𝘪𝘦𝘸 𝘰𝘧 𝘔𝘰𝘭𝘦𝘤𝘶𝘭𝘢𝘳 𝘋𝘪𝘢𝘨𝘯𝘰𝘴𝘵𝘪𝘤𝘴, outlining strategies to improve the identification of inherited breast cancer gene carriers. Check out the full article at: https://www.tandfonline.com/doi/pdf/10.1080/14737159.2020.1816829?needAccess=true

Permanent link to this article: https://inheritedcancer.net/post20221/

ICARE Social Media Post December 2020

New NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Guidelines

The National Comprehensive Cancer Network (NCCN) released new guidelines on November 20th for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/…/physician_gls/pdf/genetics_bop.pdf

Permanent link to this article: https://inheritedcancer.net/post120820/

ICARE Social Media Post December 2020

Broader Germline Testing for Urothelial Cancer

The most common inherited form of urothelial cancers is Lynch Syndrome. However, a study showed that of 586 individuals with urothelial cancer, 80 had a mutation in an inherited cancer gene (14%). Mutations in several genes were observed; however, 𝙈𝙎𝙃2 and 𝘽𝙍𝘾𝘼2 were both significantly associated with urothelial cancer (odds ratio of 3.7).   Confirmatory …

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Permanent link to this article: https://inheritedcancer.net/post120420/

ICARE Social Media Post December 2020

Breast Cancer Polygenic Risk Score May Help Predict Risk of Contralateral Disease

For further information, view the article available at: https://www.sciencedirect.com/…/pii/S0002929720303219

Permanent link to this article: https://inheritedcancer.net/post120120/

ICARE Social Media Post November 2020

Polygenic Risk Scores in Predicting Breast Cancer Risk

For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/PO.19.00360

Permanent link to this article: https://inheritedcancer.net/post111320/

ICARE Featured Video November 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

Below you may watch a featured video from the November 2020 Genetics Case Conference, which outlined how CHEK2 is NOT a Li-Fraumeni Syndrome gene. For additional details, read the articles at the links below: 𝟭𝟵𝟵𝟵: https://pubmed.ncbi.nlm.nih.gov/10617473​ 𝟮𝟬𝟬𝟮: https://pubmed.ncbi.nlm.nih.gov/12442270​ 𝟮𝟬𝟬𝟴: https://pubmed.ncbi.nlm.nih.gov/18178638

Permanent link to this article: https://inheritedcancer.net/video111220/

ICARE Social Media Post November 2020

B-GREAT 2020 Newsletter

The B-GREAT 2020 Newsletter is now available! Check out this latest edition for research updates and information about racial inequalities in healthcare. You can read the newsletter by visiting: https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-Newsletter-2020.pdf. Please feel free to share with family members, friends, and/or your healthcare providers.  We will be publishing these newsletters twice a year starting in 2021. …

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Permanent link to this article: https://inheritedcancer.net/post111020/

ICARE Social Media Post October 2020

CDH1: Cancer Risks and Risk Management

Gene: 𝘾𝘿𝙃𝟭 Cancer Risks and Management per NCCN Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021 and Gastric Version 3.2020: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 55% – Recommend annual mammogram starting at age 30; consider breast MRI with contrast starting at age 30. 𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻: Stomach cancer risk: Elevated at 83% for women, and 67% …

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Permanent link to this article: https://inheritedcancer.net/post103020/

ICARE Social Media Post October 2020

Polygenic Risk Scores in Refining Breast Cancer Risks

For further information, view the article available at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2767768

Permanent link to this article: https://inheritedcancer.net/post102720/

ICARE Social Media Post October 2020

PTEN: Cancer Risks and Risk Management

Gene: 𝙋𝙏𝙀𝙉 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 85% – Recommend annual mammogram starting at age 30-35 (or 5-10 years before the earliest known breast cancer in the family); consider breast MRI with contrast starting at age 30-35; consider …

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Permanent link to this article: https://inheritedcancer.net/post102320/

ICARE Social Media Post October 2020

Three Genetic Variants Identified That May Raise Breast Cancer Risks in Men

For more information, view the article available at: https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djaa101/5885091

Permanent link to this article: https://inheritedcancer.net/post102020/

ICARE Social Media Post October 2020

TP53: Cancer Risks and Risk Management

Gene: 𝙏𝙋𝟱𝟯 Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; …

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Permanent link to this article: https://inheritedcancer.net/post101620/

ICARE Social Media Post October 2020

CHEK2: Cancer Risks and Risk Management

Gene: 𝘾𝙃𝙀𝙆2 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 & Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast Cancer Risk: Elevated at 28-44% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs with contrast starting at age 40. 𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻: Colorectal Cancer Risk: Elevated …

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Permanent link to this article: https://inheritedcancer.net/post100920/

ICARE Featured Video September & October 2020

NCCN Genetic/Familial Breast, Ovarian, and Pancreatic Guidelines

Below you may watch a featured video from the September 2020 and October 2020 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines. Check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf

Permanent link to this article: https://inheritedcancer.net/video100820/

ICARE Social Media Post October 2020

ATM: Cancer Risks and Risk Management

Gene: 𝘼𝙏𝙈 Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021) 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 30% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs starting at age 40. Ovarian cancer risk: Possibly increased, not well established – Manage based on family history. …

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Permanent link to this article: https://inheritedcancer.net/post100220/

ICARE Publication September 2020

Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation

Abstract Objective: BRCA mutation carriers face a high lifetime risk of developing ovarian cancer. The strong inverse association between breastfeeding and the risk of ovarian cancer is established in the general population but is less well studied among women with a germline BRCA1 or BRCA2 mutation. Method: Thus, we conducted a matched case-control analysis to …

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Permanent link to this article: https://inheritedcancer.net/pub93020/

ICARE Publication September 2020

Strategies to enhance identification of hereditary breast cancer gene carriers

No abstract available Reid S, et al. Strategies to enhance identification of hereditary breast cancer gene carriers. Expert Rev Mol Diagn. 2020 Sep; 20(9):861-865. Epub 2020 Sep 11. PMID: 32856489. 

Permanent link to this article: https://inheritedcancer.net/pub91120/

ICARE Social Media Post August 2020

Older Women with Breast Cancer Have Higher Risks of Ovarian and Other Cancers

Among 4,500 post-menopausal women with breast cancer, 3.55% had a mutation in a gene associated with inherited breast cancer (3-fold higher than what was seen among women who were cancer-free). BRCA1/2 mutations were seen more frequently in women diagnosed with breast cancer at or below age 65 (2.21%) compared to those diagnosed after age 65 …

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Permanent link to this article: https://inheritedcancer.net/post82820/

ICARE Newsletter Summer 2020

Identifying Individuals At-Risk for Inherited Cancer

We have known for a while that many people who have mutations in BRCA1/2 and other inherited cancer risk genes are unaware of their mutation as they have not yet had genetic testing. A recent study among women aged 20 or older living in California and Georgia, which included almost 80,000 breast cancer patients and …

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Permanent link to this article: https://inheritedcancer.net/4nls2020/

ICARE Newsletter Summer 2020

Polygenic Risk Scores and Colon Cancer

A recent study focused on how polygenic risk scores (PRS) may be related to colorectal cancers. Of note, PRS are calculated using genetic differences throughout someone’s DNA, in combination with their clinical and family history of cancer. PRS, alongside environmental and lifestyle risk factors, may help to identify people who may benefit from screening at …

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Permanent link to this article: https://inheritedcancer.net/5nls2020/

ICARE Social Media Post August 2020

Inherited Prostate Cancer Risk

Over 600,000 men age 40 and older who were part of a family with at least three consecutive generations affected with prostate cancer were studied from the Utah Population Database. Findings from this study showed that: 36,000 had prostate cancer (5.9%) 2,500 had early-onset disease (7%) 4,000 had lethal disease (11.1%) 15,000 had clinically significant …

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Permanent link to this article: https://inheritedcancer.net/post81420/

ICARE Social Media Post July 2020

Cancer Risks in Men with BRCA1 and BRCA2 Pathogenic Variants

Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2767423

Permanent link to this article: https://inheritedcancer.net/post73120/

ICARE Social Media Post July 2020

Breast Cancer Risks May be Higher in Women with Two CHEK2 Mutations Versus One CHEK2 Mutation

A study comparing women with two CHEK2 mutations to one CHEK2 mutation showed that those with two mutations were: -more likely to get breast cancer (80.6% versus 41.2%) -more likely to be diagnosed at or below age 50 (61.3% versus 23.9%) -more likely to have a second breast cancer diagnosis (22.6% versus 8.1%) These findings …

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Permanent link to this article: https://inheritedcancer.net/post71720/

ICARE Social Media Post July 2020

Individuals with a First-Degree Relative with Blood Cancer Are at Increased Risk for Blood-Related Cancer

Individuals with a first-degree relative (for example, parent, sibling, or child) with blood cancer, such as lymphoma, have a higher chance of being diagnosed with blood-related cancer (i.e., hematologic malignancy), according to a recent study. The risk to develop certain blood cancers depends on how closely related the relative is (e.g., higher risks for first-degree …

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Permanent link to this article: https://inheritedcancer.net/post71420/

ICARE Publication July 2020

Update on multi-gene panel testing and communication of genetic test results

Abstract With technological advances, multi-gene panel testing has become increasingly used to identify patients at risk for hereditary breast cancer (HBC). There are currently evidence-based interventions and breast cancer screening strategies that exist for cancer prevention and early detection among patients with HBC. Moreover, in addition to the personal impact of identifying HBC, this information …

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Permanent link to this article: https://inheritedcancer.net/pub70820/

ICARE Publication May 2020

Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers

Abstract Purpose: Identification of inherited breast cancer may guide cancer risk management. We sought to compare risk management practices across women with inherited breast cancer genes. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management. Comparisons were made across genes. Results: The 235 participants with P/LP variants …

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Permanent link to this article: https://inheritedcancer.net/pub52220/

ICARE Featured Video May 2020

Variant Classification

Below you may watch a featured video from the May 2020 Genetics Case Conference, which focused on deciphering variant reports and classification with guest expert Dr. Rebecca Smith from Vanderbilt University Medical Center.    

Permanent link to this article: https://inheritedcancer.net/video51420/

ICARE Social Media Post May 2020

CDH1: Gastric and Breast Cancer Risks

CDH1 mutation carriers are at higher risk for diffuse gastric cancer (men and women) and lobular breast cancer (women). Current strategies to manage high risks of gastric cancer include prophylactic gastrectomy (i.e., removal of the stomach), which can have severe physical and psychological implications. A recent study found that men have a higher risk of …

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Permanent link to this article: https://inheritedcancer.net/post50520/

ICARE Social Media Post April 2020

PALB2: Cancer Risks and Risk Management

Gene: PALB2 Cancer Risks and Management (per NCCN version 1.2020): Women: Breast cancer risk: Elevated at 53% – Recommend annual breast MRI with contrast starting at age 30, and annual mammogram with consideration of tomosynthesis starting at age 30; Consider risk-reducing mastectomy. Ovarian cancer risk: Elevated at 5% – Manage based on family history. Men …

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Permanent link to this article: https://inheritedcancer.net/post42820/

ICARE Social Media Post April 2020

BRCA2: Cancer Risks and Risk Management

Gene: BRCA2 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …

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Permanent link to this article: https://inheritedcancer.net/post42120/

ICARE Social Media Post April 2020

BRCA1: Cancer Risks and Risk Management

Gene: BRCA1 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …

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Permanent link to this article: https://inheritedcancer.net/post41420/

ICARE Social Media Post April 2020

EPCAM: Cancer Risks and Risk Management

Gene: EPCAM Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …

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Permanent link to this article: https://inheritedcancer.net/post4120/

ICARE Social Media Post March 2020

PMS2: Cancer Risks and Risk Management

Gene: PMS2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 0%-15% – Consider risk-reducing hysterectomy. Men and Women: Colorectal cancer risk: Elevated at 12%-20% – Recommend colonoscopy every 1-2 years starting at age 20-25 Gastric cancer risk: Not well established – Consider upper endoscopy every 3-5 years beginning at …

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Permanent link to this article: https://inheritedcancer.net/post32420/

ICARE Social Media Post March 2020

MSH6: Cancer Risks and Risk Management

Gene: MSH6 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: 17%-46% – Consider risk-reducing hysterectomy. Ovarian cancer risk: 1%-11% – Evidence is insufficient to make specific recommendations. Men and Women: Colorectal cancer risk: 15%-44% – Recommend colonoscopy every 1-2 years starting at age 20-25. Gastric cancer risk: 0%-5% – Consider upper …

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Permanent link to this article: https://inheritedcancer.net/post31720/

ICARE Social Media Post March 2020

Polygenic Risk Score and Colon Cancer Risk

A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someone’s DNA, in combination with clinical and family history of cancer. This score, alongside environmental and lifestyle risk factors, may help to identify people who might benefit from screening at an earlier age. Important facts about PRS: – It does NOT look for changes …

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Permanent link to this article: https://inheritedcancer.net/post31320/

ICARE Social Media Post March 2020

MSH2: Cancer Risks and Risk Management

Gene: MSH2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …

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Permanent link to this article: https://inheritedcancer.net/post31020/

ICARE Social Media Post March 2020

Colon Cancer and Polyp Risks

New colon cancer and polyposis genes recently identified include NTHL1, POLE, POLD1, MSH3, and RNF43. Previous studies suggest these genes raise the risk for colon cancer and polyposis; however, recent data suggest that environmental factors may also play an important role in risk. Ultimately, these genes account for a very small fraction of polyposis cases. …

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Permanent link to this article: https://inheritedcancer.net/post3620/

ICARE Social Media Post March 2020

MLH1: Cancer Risks and Risk Management

Gene: MLH1 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 43%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 5%-20% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Breast cancer risk: Elevated at 12%-17% – Manage same as general population. Men and Women: Colorectal cancer …

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Permanent link to this article: https://inheritedcancer.net/post3320/

ICARE Social Media Post February 2020

Genetic Testing in Tumors versus Genetic Testing for Cancer Risk

There are different types of genetic/DNA tests offered to patients with cancer: 1) Tumor tests, mainly done to guide cancer treatment. 2) Blood or saliva tests (on normal DNA that individual was born with) to identify inherited cancer predisposition, which may also guide cancer treatment in some instances. Genetic testing of the tumor detects mutations …

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Permanent link to this article: https://inheritedcancer.net/post22620/

ICARE Newsletter Winter 2020

Community Spotlight

I was diagnosed with breast cancer in December 2018 and was found to be PALB2+. The PALB2 gene had not been tested for when my older sister was diagnosed with breast cancer and had genetic testing done four years earlier. This was new! My cancer was very similar to my sister’s, but being PALB2+ changed …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2020/

ICARE Newsletter Winter 2020

New Study Based on ICARE Participants with ATM & CHEK2 Mutations

We are excited to tell you about our recently published results based solely on data from ICARE participants with ATM and CHEK2 mutations. Our findings suggest most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone. This emphasizes the need to share …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-winter-2020new-study-based-on-icare-participants-with-atm-chek2-mutations/

ICARE Newsletter Winter 2020

PALB2 Mutations & Cancer Risk

A newly published study of 524 families with pathogenic PALB2 mutations from around the world, including almost 50 ICARE participants, represents the largest, most comprehensive effort to evaluate cancer risks.1 Results showed increased risks for female breast cancer (53%), ovarian cancer (5%), pancreatic cancer (2-3%), and male breast cancer (1%). Findings did not suggest higher …

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Permanent link to this article: https://inheritedcancer.net/6nlw2020/

ICARE Newsletter Winter 2020

Ask the Expert

Through each newsletter, we give our participants an opportunity to have their questions answered by experts. If you have a question you would like addressed, please email the study team at ICARE@InheritedCancer.net for consideration in future newsletters. The following question was addressed by Ben Ho Park, MD, PhD, who is the Donna S. Hall Chair …

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Permanent link to this article: https://inheritedcancer.net/8nlw2020/

ICARE Newsletter Winter 2020

Lynch Syndrome Cancer Risks Across Genes

A worldwide study reporting on cancer risks among individuals with mutations in Lynch syndrome genes showed that there are substantial differences in cancer risks across the various genes.1 Specifically, the risk for colorectal cancer in those with  MLH1, MSH2, and MSH6 mutations was substantially higher than what was seen for those with PMS2 mutations. Additionally, …

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Permanent link to this article: https://inheritedcancer.net/5nlw2020/

ICARE Social Media Post February 2020

PMS2 and MSH6 Colorectal Cancer Risks

Individuals with Lynch syndrome have an increased risk of colorectal cancer (CRC) and other cancers. The level of CRC risk is different based on which gene they have a mutation in. Of note, MLH1 and MSH2 carriers have the highest risk of colorectal cancer, generally in the range of 43%-52% by age 70. A recent …

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Permanent link to this article: https://inheritedcancer.net/post22020/

ICARE Social Media Post February 2020

Lynch Syndrome Cancer Risks Across Genes

A worldwide study suggests that risks for cancers for the various Lynch syndrome genes have some differences. The risk of colorectal cancer for those with a mutation in the MLH1, MSH2 and MSH6 genes is higher than what is seen for carriers of a PMS2 mutation. Additionally, men with MSH2 gene mutations have a higher …

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Permanent link to this article: https://inheritedcancer.net/post2720/

ICARE Publication January 2020

Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers

Abstract Background: With the increasing use of multigene panel tests, pathogenic and likely pathogenic (P/LP) variants are identified more frequently in the moderate-penetrance breast cancer genes ATM and CHEK2. Lifetime breast cancer risk among women with P/LP variants in these genes generally exceeds 20%, meeting the threshold at which high-risk breast cancer screening through breast magnetic …

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Permanent link to this article: https://inheritedcancer.net/pub12220/

ICARE Social Media Post January 2020

Polygenic Risk Scores

A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someone’s DNA, in combination with clinical and family history of cancer. This unique type of score may be utilized to calculate the lifetime risk of breast cancer. Important facts about PRS’s: Different from BRCA1/2 testing, which look for changes in these specific genes Should …

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Permanent link to this article: https://inheritedcancer.net/post11420/

ICARE Featured Video January 2020

PALB2

Below you may watch a featured video from the January 2020 Genetics Case Conference, which focused on PALB2 gene mutations with guest expert Dr. Marc Tischkowitz from the University of Cambridge.    

Permanent link to this article: https://inheritedcancer.net/video10920/

ICARE Social Media Post December 2019

PALB2 Mutations and Cancer Risk

A new published study of 524 families with PALB2 mutations, including our very own ICARE participants, from around the world showed increased risks of female breast, ovarian, pancreatic, and male breast cancer. The level of risk for female breast cancer is enough to recommend cancer risk management. Cancer risk management includes screening or risk-reducing surgery. …

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Permanent link to this article: https://inheritedcancer.net/post121619/

ICARE Publication December 2019

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Abstract Purpose: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. Methods: We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate …

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Permanent link to this article: https://inheritedcancer.net/pub121619/

ICARE Featured Video November 2019

Polygenic Risk Scores

Below you may watch a featured video from the November 2019 Genetics Case Conference, which focused on Polygenic Risk Scores with guest expert Dr. Amanda Toland from The Ohio State University.    

Permanent link to this article: https://inheritedcancer.net/video111419/

ICARE Social Media Post November 2019

Educational Resources: The Family Link Between Breast and Ovarian Cancer in Black Women

The differences seen in access to healthcare across different racial groups are known as health disparities. To address the gap in awareness, we have pursued efforts to raise awareness about inherited breast cancer among African Americans. We are excited to introduce you to another invaluable resource, the Breast Cancer Genetics Research and Education for African American …

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Permanent link to this article: https://inheritedcancer.net/post11119/

ICARE Publication November 2019

Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study

Abstract Background: Black women are overrepresented among premenopausal breast cancer (BC) survivors. These patients warrant genetic testing (GT) followed by risk-reducing behaviors. This study documented patterns and predictors of cancer risk-management behaviors among young black BC survivors after GT. Methods: Black women (n = 143) with a diagnosis of BC at the age of 50 years or …

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Permanent link to this article: https://inheritedcancer.net/pub110119/

ICARE Social Media Post October 2019

Lifestyle Factors Associated with Familial and Inherited Breast Cancer Risks

Body mass index (BMI) is an indicator of fat content in the body. A lower body mass index may reduce breast cancer risk in women, including those with a family history of breast cancer. However, a new study reported that higher BMI also increases breast cancer risk in the general population and those with a …

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ICARE Social Media Post October 2019

Inherited Breast Cancer Among Latina Women

Latina women are at risk for inherited breast cancer: Breast cancer mortality rates are higher among Latina women compared to non-Hispanic White women. Latina women also have a higher prevalence of triple-negative breast cancer when compared to with non-Hispanic White women. Latina women are diagnosed with breast cancer at earlier ages, 56 years versus 63 …

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Permanent link to this article: https://inheritedcancer.net/post102319/

ICARE Newsletter Summer 2019

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Guidelines

(Version 1.2019, posted July 3, 2019) For Individuals with Lynch Syndrome: The cancer risk table was updated: Addition of new cancer risks by specific genes: breast and bladder cancers Updates of cancer risks by specific genes: ovarian, prostate, gastric, pancreatic, urothelial, small bowel, and brain/CNS cancers Removal of reference to sebaceous neoplasms Recommendations for cancer …

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ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: BRCA1/2

Looking at pregnancy history and breast cancer risk, a recent study of almost 8,000 women with BRCA1/2 mutations evaluated breast cancer risks related to pregnancy.1 Findings suggested the overall number of pregnancies was not associated with breast cancer risk in BRCA1 carriers; however, BRCA1 carriers with one pregnancy were at higher risk for breast cancer …

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ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: CHEK2

In a study of inherited mutations in the CHEK2 gene, findings suggest there were two specific mutations that could predispose men to testicular germ cell tumors (TGCT). Specifically, 205 men with these tumors were tested for 48 DNA repair genes, and findings were then tested in other patient populations. These findings suggest that CHEK2 mutations …

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ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: DICER1

In a study of over 100 individuals with a DICER1 mutation, findings suggest that 5.3% of individuals had developed cancer by age 10, and 19.3% by age 50. After age 10, cancer risks for women were higher compared to men. Specific cancers for which risks were high included gynecologic and thyroid cancers. These findings are …

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ICARE Newsletter Summer 2019

Expanding Our Thinking About Cancer Risks in TP53 Mutations and Li-Fraumeni Syndrome

Since expanded genetic testing has become available through multigene panel tests, studies have suggested that many people identified to have TP53 mutations do not have a typical personal or family history, which is usually seen with Li-Fraumeni syndrome (LFS). A recent study looking at over 300 individuals with TP53 mutations (identified through multi-gene panel testing) …

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ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: HAUS6, KANLS1, PCR1

Through a study of over 13,000 patients with serous ovarian cancers and almost 41,000 controls, 34 genes that raise the risk for ovarian cancer were identified. Additional laboratory studies were conducted to further characterize some of these genes, suggesting that three of these new genes may be essential (HAUS6, KANLS1, and PRC1). This study has …

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ICARE Publication April 2019

International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

Abstract Background: Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two time periods (1995 to 2008 and 2009 to 2017). Methods: Eligible subjects were identified …

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Permanent link to this article: https://inheritedcancer.net/pub41119/

ICARE Newsletter Winter 2019

Basal Cell Cancers May Be a Risk Factor to Predict Inherited Cancer Predisposition

An interesting area of progress to identify individuals with inherited risks included a study of over 13,000 individuals with six or more basal cell cancers (BCC) evaluated through a claims database. Results indicated ~20% of these individuals had a germline mutation in a DNA repair gene, including BRCA1/2, PALB2, and the Lynch syndrome genes, among …

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ICARE Newsletter Winter 2019

Expansion of Lynch Syndrome Tumor Spectrum Which May Have Treatment Implications

Although the Lynch syndrome tumor spectrum is thought to be limited to cancers of the colorectum, endometrium, ovaries, stomach, and a few other cancer types, a recent article suggested there might be a broader tumor spectrum than previously considered. Furthermore, colorectal and endometrial cancers which develop among Lynch syndrome patients frequently are determined on tumor …

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ICARE Publication November 2018

Health beliefs associated with readiness for genetic counseling among high risk breast cancer survivors

Abstract We used the Health Belief Model (HBM) to explore factors associated with readiness for genetic counseling among breast cancer survivors. Breast cancer survivors meeting NCCN genetic counseling referral criteria completed questionnaires capturing demographic and clinical information and factors guided by the HBM, including health beliefs, psychosocial variables, and cues to action. Using logistic regression, …

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Permanent link to this article: https://inheritedcancer.net/pub112818/

ICARE Newsletter Summer 2018

Updates to NCCN Genetic/Familial High-Risk Assessment: Colorectal Guidelines

For Individuals with Lynch Syndrome: Surveillance for gastric and small bowel cancer now indicates there is no clear data to support this, but surveillance can be performed every 3-5 years starting at age 40 Lack of evidence to make a recommendation for pancreatic or prostate cancer screening, beyond those already recommended through other NCCN Guideline …

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ICARE Newsletter Summer 2018

Differences in Breast Cancer Risks Among Women with Lynch Syndrome

Breast cancer risks were recently reported among a sample of 423 women with mutations in one of the Lynch syndrome genes (MLH1, MSH2, MSH6, or PMS2).1 Results indicated that breast cancer risks were substantially higher among those with MSH6 and PMS2 mutations, compared to MLH1 and MSH2 mutations. In fact, breast cancer risk to age …

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ICARE Newsletter Summer 2018

Refining Cancer Risks Among Individuals with Lynch Syndrome

Over the past year, multiple studies have refined risks and types of cancer among individuals with Lynch syndrome. Through a Scandinavian study, risks for 13 types of cancer (with colorectal cancers being excluded), were reported to be elevated with differences related to gender, age, and the gene in which mutation was present. Incidence rates of …

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ICARE Newsletter Winter 2018

Advances in the Understanding of Inherited Prostate Cancer

Findings through a recent study reported that inherited cancer gene mutations were present in 8.2% of those with advanced or metastatic prostate cancer, which provides additional support to include this group of men in broader testing, particularly as targeted treatments based on inherited gene mutations becomes increasingly available.1 Another recent study suggested that those with …

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ICARE Newsletter Winter 2018

The Role of “Non-Truncating” Mutations in RAD51D on Ovarian Cancer Risk

As testing has broadened to include newer inherited cancer genes, studies have suggested that mutations which shorten the protein (“truncating mutations”) in the RAD51D gene are associated with ovarian cancer.  However, a recent study examined ovarian cancer risks for a “non-truncating” change (a single base pair within the gene is changed which is called a …

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ICARE Newsletter Winter 2018

Refining Risks and Outcomes of Breast Cancer in BRCA Carriers

In an effort to further study breast cancer risks among BRCA carriers, a recently published study compared breast cancer risks among those with and without a close family member (first-degree relative) with breast cancer.1 Findings showed that risk for breast cancer by age 80 was 60.8% in BRCA1 carriers and 63.1% among BRCA2 carriers, with …

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ICARE Newsletter Winter 2018

Ask the Expert

The following question was addressed by Dr. Ingrid Meszoely is a breast surgeon and Clinical Director of the Vanderbilt Breast Center at One Hundred Oaks. She leads a high-risk clinic, through which she and her team of nurse practitioners manage patients with inherited breast cancer predisposition. Her research interests include both clinical and translational breast …

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Permanent link to this article: https://inheritedcancer.net/8nlw2018/

ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Risks Among BRCA Carriers Followed Over Time

Findings from an international study of over 6000 women with a BRCA1 mutation and almost 4000 women with a BRCA2 mutation followed for an average of 5 years were recently published.1 Results showed the risk of breast cancer by age 80 was ~70% for both BRCA1 and BRCA2 carriers. Rates of breast cancer increased until …

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Permanent link to this article: https://inheritedcancer.net/1nls2017/

ICARE Newsletter Summer 2017

What Are New and Subsequent Cancer Risks Among Patients with Li-Fraumeni Syndrome?

Although individuals with Li-Fraumeni Syndrome (LFS), due to mutations in the TP53 gene, have a very high lifetime risk of cancer, risks of initial and subsequent cancers are not well defined. Through a group of patients with the classic form of LFS, researchers at the National Cancer Institute estimated their cancer risks. They evaluated a …

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ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Associations for Genes Tested Through Multi-Gene Panels

As testing for multiple genes at the same time (“multi-gene panel testing”) has become increasingly available with tremendous advances in genetic testing technology, it has become critical to evaluate and refine cancer associations and levels of risk for many of these genes now tested. Through a commercial laboratory database of almost 100,000 results of multi-gene …

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Permanent link to this article: https://inheritedcancer.net/2nls2017/

ICARE Newsletter Winter 2017

Characterizing Breast Cancers That Develop Among Women with a CHEK2 Mutation

With increasing use of multi-gene panel tests, one of the genes in which mutations are frequently detected among breast cancer patients and others is the CHEK2 gene. This gene has been shown to have a 2-3 fold excess risk for breast cancer. There are many CHEK2 mutations that have been identified that generally fall into …

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Permanent link to this article: https://inheritedcancer.net/8nlw2017/

ICARE Newsletter Winter 2017

A Newly Identified Inherited Colon Cancer Gene: FAN1

There continues to be rapid advances in identifying new genes involved in inherited cancer risk.  An example of yet another recently identified gene is FAN1, in which a nonsense variant (i.e. the premature change or loss of a protein) was identified following exome sequencing in 3 individuals from a family who met clinical criteria for …

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Permanent link to this article: https://inheritedcancer.net/4nlw2017/

ICARE Newsletter Winter 2017

Ask the Expert

The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at the Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Q. Does salpingo-oophorectomy reduce the risk of breast …

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Permanent link to this article: https://inheritedcancer.net/7nlw2017/

ICARE Newsletter Summer 2016

What Are the Endometrial Cancer Risks Among BRCA Carriers?

Although BRCA mutations confer increased risk for ovarian, fallopian tube, and primary peritoneal cancer, there have been limited and conflicting risks reported for endometrial cancer. Consequently, current practice guidelines only recommend the removal of the fallopian tubes and ovaries as a risk-reducing option for BRCA carriers.1 Specifically, through a prospective study of 4500 women with …

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Permanent link to this article: https://inheritedcancer.net/9nls2016/

ICARE Newsletter Summer 2016

CHEK2 *1100delC Mutation Carriers: Breast Cancer Risk by Age and Tumor Type and Other Associated Cancer Risks

The CHEK2 *1100delC mutation is the most common “truncating” mutation (causing a shortened protein) in the CHEK2 gene among Europeans, with lifetime breast cancer risk in the range of 20-30% among female carriers. Results of data pooled from over 30 studies which included 40,000 breast cancer cases and 40,000 controls, showed that estrogen receptor (ER) …

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ICARE Newsletter Summer 2016

Risk of Second Cancers Among Those with PTEN Mutations

A recently published study to evaluate the risk of second cancers among PTEN mutation carriers showed that women with breast cancer had a 10-year second breast cancer cumulative risk of almost 30%. Overall, the risk of second primary cancers was almost 8-fold that of the general population, primarily due to the higher risks of cancer …

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ICARE Newsletter Summer 2016

An Approach to Making Risk Management Recommendations for Newer Inherited Cancer Genes

A recent article sought to develop an approach to cancer risk management among individuals with mutations in newer inherited cancer genes, many of which result in a moderate (rather than ‘high’) cancer risk. Overall, the investigators suggest a framework that takes the age-specific, lifetime, and absolute cancer risks into account for inherited cancer genes where …

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ICARE Newsletter Winter 2016

Improving Our Understanding of Cancer Risks Among Individuals with Li-Fraumeni Syndrome

A recent study from France included over 400 patients with Li-Fraumeni Syndrome (all of whom had an inherited TP53 gene mutation). Cancer types among children and adults differed, with the main cancer types among children being osteosarcomas, adrenocortical carcinomas, central nervous system (CNS) tumors and soft tissue sarcomas; whereas among adults, the main cancer types …

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ICARE Newsletter Winter 2016

How Much Does Age at First Breast Cancer Affect the Risk of Contralateral Breast Cancer Risk in BRCA Carriers?

A recently published study of Dutch patients (including 200 BRCA1 carriers, 71 BRCA2 carriers, and 6023 non-carriers) showed that the contralateral breast cancer (breast cancer in the opposite breast) risks at 10 years was 21.1% for BRCA1, 10.8% for BRCA2, and 5.1% for non-carriers. Among BRCA mutation carriers, it was important to take age at …

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ICARE Newsletter Winter 2016

Ask the Expert

The following question was addressed by Dr. Christine Laronga at the Moffitt Cancer Center: Q. As a BRCA carrier, is it reasonable for me to consider nipple-sparing mastectomy (compared to total mastectomy) to reduce my future risks of breast cancer? A. One  strategy to manage the high (60-70%) lifetime breast cancer risk among women with …

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ICARE Newsletter Winter 2016

What Is the Risk for Ovarian Cancer Among Women with Mutations in Newer Ovarian Cancer Genes?

The most common form of inherited ovarian cancer is due to mutations in the BRCA1 and BRCA2 genes, which are present in 10-15% of women with ovarian cancer and lead to an ovarian cancer risk of up to 44% and 27%, respectively.  Another set of genes known to raise ovarian cancer risks are the mismatch …

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ICARE Newsletter Summer 2015

Location and Type of BRCA1/2 Mutation May Impact Breast and Ovarian Cancer Risks

A study of almost 20,000 BRCA1 carriers and 12,000 BRCA2 carriers demonstrated differences in breast and ovarian cancer risks depending on the location and type of mutation. Although all regions are associated with increased risk for breast and ovarian cancers among BRCA1/2 carriers, there were specific regions that were associated with even higher cancer risks. …

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ICARE Newsletter Summer 2015

Breast Cancer Risks and Outcomes Among Women with a PALB2 Mutation

Through a recent study of over 12,000 Polish women with breast cancer, PALB2 mutations were detected in almost 1%.  In this study, about one third of those with a PALB2 mutation had triple negative (lacking estrogen, progesterone and HER2 receptors) breast cancer and the average age at breast cancer diagnosis was 53.3 years.  Breast tumors …

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ICARE Newsletter Winter 2015

PALB2: A Third Important Gene for Inherited Breast Cancer

Following the publication of an important article in the New England Journal of Medicine (NEJM) in August 2014, germline PALB2 gene mutations were confirmed as the third most important gene for inherited breast cancer, following BRCA1 and BRCA2.1 PALB2 stands for “partner and localizer of BRCA2” and is located on chromosome 16. Studies suggest that PALB2 mutations …

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Permanent link to this article: https://inheritedcancer.net/1nlw2015/

ICARE Newsletter Winter 2015

Ask the Expert

The following question was addressed to Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Over the course of his career, he has profoundly shaped …

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ICARE Newsletter Summer 2014

Is Breast Cancer Risk Affected by Timing of Oral Contraceptives in BRCA1 Carriers?

Although oral contraceptives (OC) reduce the risk of ovarian cancer in BRCA carriers,1 it is possible that they may raise breast cancer risk. Thus it is important to understand whether age at OC use is a factor when determining impact on breast cancer risk. To address this question, a recent study (which included data from …

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ICARE Newsletter Summer 2014

What Are Factors That Modify Cancer Risk in BRCA Carriers?

Since the discovery of the BRCA genes about two decades ago, a number of studies have reported on factors that may modify cancer risks in those who carry gene mutations. Recently, results of previously published studies were collected through a comprehensive literature review to estimate the overall effects of various risk modifiers in BRCA carriers. …

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ICARE Newsletter Summer 2014

Is There a Higher Risk of Prostate Cancer in Individuals with Lynch Syndrome?

Over the last few years, there have been studies to suggest that men with Lynch Syndrome may have a higher risk for developing prostate cancer.1,2,3,4,5 The results of these studies have differed as to whether there is an association with an aggressive form of disease. For example, some studies report the risk of developing prostate …

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Permanent link to this article: https://inheritedcancer.net/6nls2014/

ICARE Newsletter Summer 2014

Ask the Expert

The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at Women’s College Research Institute in Toronto, Canada.  Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Over the course of his career, he has profoundly shaped …

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Permanent link to this article: https://inheritedcancer.net/5nls2014/

ICARE Newsletter Summer 2014

New Study to Suggest Benefits of Oophorectomy in BRCA Mutation Carriers

A recent study published in the Journal of Clinical Oncology reported that prophylactic oophorectomy resulted in reducing the risk of ovarian cancer by 80%, and reduced all-cause mortality by 77%.1 The authors reported results on almost 5800 women, of whom 186 developed either ovarian, fallopian tube or peritoneal cancer. Women who had bilateral oophorectomy had …

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ICARE Newsletter Winter 2014

Recent Evidence to Suggest That Individuals with Germline Mutations in the PTEN gene (Which Leads to Cowden Syndrome) May Have Higher Renal Cancer Risks

Cowden Syndrome is an inherited condition that leads to higher risks for breast and thyroid cancer, and possibly other cancers.1 There have been a few recent studies that suggest that this condition also puts individuals at a higher risk for kidney cancer. Specifically, Tan et al2 reported a lifetime risk of 30.6% (95% CI: 17.8-49.4) …

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Permanent link to this article: https://inheritedcancer.net/3nlw2014/

ICARE Newsletter Winter 2014

Ask the Expert

The following question was addressed by Dr. Laronga who is a breast surgeon based at the Moffitt Cancer Center: Q. What are the risks of breast cancer after ovarian cancer in BRCA carriers? What risk management options are recommended? A. BRCA carriers remain at a higher risk of breast cancer, even after having ovarian cancer; …

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ICARE Newsletter Winter 2014

Contralateral Mastectomy May Improve Survival in BRCA Mutation Carriers

It has been established that women who carry a germline BRCA mutation face breast cancer risks of 60-70% in their lifetime. After an initial breast cancer diagnosis, these women face a high risk for contralateral breast cancer. Some women with BRCA mutations move forward with contralateral mastectomy when they develop their first breast cancer diagnosis (as …

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Permanent link to this article: https://inheritedcancer.net/1nlw2014/

ICARE Newsletter Summer 2013

Oophorectomy Following Menopause

Prior studies have indicated that removal of the ovaries and fallopian tubes reduces the ovarian cancer risk by ~80% and breast cancer risk by ~50%, particularly when performed pre-menopausally. However a recent case control study of 2854 pairs of women with a BRCA1 or BRCA2 mutation with or without breast cancer showed that the risk …

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Permanent link to this article: https://inheritedcancer.net/5nls2013/

ICARE Newsletter Summer 2013

Ask the Expert

The following question was addressed by Dr. Pal, who is a Clinical Geneticist based at the Moffitt Cancer Center: Q. Does exposure to radiation increase breast cancer risk in BRCA mutation carriers? A. A number of studies have been conducted to evaluate whether BRCA mutation carriers may be more prone to radiation-induced breast cancer than …

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ICARE Newsletter Winter 2013

Points to Consider Regarding Bilateral Salpingectomy as a Risk Reduction Procedure for Ovarian Cancer

Over the last few years, there has been evidence to suggest that a substantial proportion of ovarian cancer may start in the fallopian tubes, although some cancer clearly arises in the ovary.  As a result, removal of both fallopian tubes (called ‘bilateral salpingectomy’) has been suggested as an interim procedure to reduce risk in BRCA …

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Permanent link to this article: https://inheritedcancer.net/2nlw2013/

ICARE Newsletter Winter 2013

Is Lynch Syndrome Associated with Breast Cancer?

The cancer spectrum typically seen in individuals with Lynch Syndrome includes cancers of the colon, endometrium, ovary, stomach, and other cancers (including cancer of the renal pelvis, ureter, small bowel and pancreas).  The issue of whether breast cancer risk is elevated in those with Lynch syndrome has been controversial, with conflicting results between various studies.  …

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Permanent link to this article: https://inheritedcancer.net/3nlw2013/

ICARE Newsletter Summer 2012

Ask the Expert: What are the risks of hormone replacement therapy (HRT) on breast cancer risk in women with BRCA mutations?

The following questions were addressed by Drs. Pal and Lancaster at the Moffitt Cancer Center: Q. What are the risks of hormone replacement therapy (HRT) on breast cancer risk in women with BRCA mutations? A. Concern about HRT in BRCA carriers is its potential to raise the risk of breast cancer, as seen in the …

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ICARE Newsletter Summer 2012

New Study Suggests Breast Cancer Risk for Non-Carriers of Family-Specific BRCA Mutations Is Not Increased

Data from a population-based study was recently reported to estimate breast cancer risk among family members who tested negative for a known BRCA1/2 family mutation (i.e., non-carriers). The study included 3047 women diagnosed with breast cancer. Results from the study indicated there was no increased risk for breast cancer in non-carriers as compared to family …

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ICARE Newsletter Summer 2012

Ask the Expert: What are the recommendations for screening following prophylactic surgeries?

The following questions were addressed by Drs. Pal and Lancaster at the Moffitt Cancer Center: Q. What are the recommendations for screening following prophylactic surgeries? A. In BRCA mutation carriers, bilateral prophylactic mastectomy reduces the risk of breast cancer by over 90%. It essentially lowers the risk of breast cancer to below that of the …

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Permanent link to this article: https://inheritedcancer.net/5nls2012/

ICARE Newsletter Summer 2011

Ask the Expert

We are fortunate to have Dr.  Alvaro Monteiro, who is a molecular geneticist and expert on the BRCA1 and BRCA2 genes, as a member of our team. For our first ICARE newsletter, Dr. Monteiro teaches us about Variants of Uncertain Significance. Q. What is a Variant of Uncertain Significance (VUS) test result? How do researchers …

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