By Marleah Dean Kruzel, PhD, BRCA2 Previvor When I was eight years old, my mother found a lump in her breast – barely noticeable. For a few years, I watched her undergo chemotherapy, radiation, and a prophylactic mastectomy and reconstruction. Since then, my maternal aunt and grandmother also fought breast cancer, and we learned my …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-community-spotlight-the-patient-and-the-researcher-shares-her-uncertain-future-and-lessons-shes-learned/
A recent study found that in females with unilateral breast cancer (meaning breast cancer on one side) who decided to have a double mastectomy had similar mortality rates to those treated with lumpectomy or unilateral mastectomy (meaning double mastectomy did NOT lead to longer survival). Findings showed that while bilateral mastectomy greatly lowered the risk …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-double-mastectomy-not-linked-to-survival-advantage/
Among BRCA1/2 carriers with advanced breast cancer, PARP inhibitors showed some activity even in patients with platinum resistant/unresponsive disease. However, the optimal delivery of platinum agents and PARP inhibitors was not clear.1 In another study of BRCA1/2 carriers with breast cancer (OlympiAD Trial), PARP inhibitors were compared to chemotherapy Treatment of Physician’s Choice (TPC), with …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-brca1-2-carriers-treatment-advances/
A recently published study reported that among females with ovarian cancer who received chemotherapy, their risk for breast cancer was lower for the next 5 years. Specifically, incidence rates were lower at 2 years (1.18%) and between 2 to 5 years (1.13%); however, incidence rates rose thereafter for BRCA1 carriers (>4% annually post 10 years). This study …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-breast-cancer-after-ovarian-cancer-in-brca1-2-carriers/
A recent study reported that pregnancy after breast cancer was safe for both mother and baby.1 Specifically, the researchers found that pregnancy after breast cancer was not associated with adverse maternal prognosis or fetal outcomes. Another study reported that breast cancer after pregnancy could be associated with poorer outcomes. Specifically, breast cancer diagnosed within 10 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-brca1-2-carriers-and-pregnancy-related-ris/
A new study found that risks may be higher for multiple types of cancer, including breast cancer, in both females and males who have two CHEK2 mutations: Additionally, findings showed that the type of mutation may be important to guide level of risk (e.g., truncating 1100delC homozygotes being at a higher risk than compound heterozygotes …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-risks-of-cancer-in-individuals-with-two-chek2-mutations-called-bi-allelic-mutations/
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – Released September 11th, 2024 (V1.2025) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Testing Updates: Gene Updates: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Cancer – Released August 8th, 2024 (V1.2024) Check out the full guidelines by creating a FREE account at …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
Below is a featured video from the September 2024 case conference, during which Tuya Pal, MD, FACMG from Vanderbilt University Medical Center presents on recent updated to the National Comprehensive Cancer Network (NCCN) Genetic/Familial Breast, Ovarian, and Pancreatic cancer guidelines.
Permanent link to this article: https://inheritedcancer.net/video0912242/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. Some updates include ⤸ To read more, you can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
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Unlock valuable resources for your health journey! 🌟 The National Comprehensive Cancer Network (NCCN) guides clinical practice by providing free access to their guidelines that are available to both patients and healthcare providers. To access the most recent version of cancer-related guidelines that are updated at least annually, create a free username and password at …
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This question was addressed by Ronald D. Alvarez, MD, MBA, Professor and Chairman of the Department of Obstetrics and Gynecology at the Vanderbilt University Medical Center in Nashville, Tennessee. He is also the current vice chair of the National Comprehensive Cancer Network (NCCN) Ovarian Cancer Treatment Guidelines and has served in multiple leadership roles in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-ask-the-expert/
Several important studies were published recently on the effectiveness of risk management strategies in BRCA carriers. Specifically, a recently published study in which ICARE participants were included suggested that preventive bilateral mastectomy for BRCA carriers greatly reduced the risk of developing breast cancer by 80%.1 Additionally, study findings showed that after preventive mastectomy, the chance …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-how-well-do-cancer-risk-management-strategies-work-among-brca-carriers/
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Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – Released February 12th, 2024 (V3.2024) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Contralateral breast cancer risks in these updated guidelines: Expanded guidance about gynecologic cancers in BRCA1/2 carriers: Some highlights related to HRT include: Genetic/Familial High-Risk Assessment: Colorectal Cancer – Released …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
Below is a featured video from the March 2024 case conference, during which Tuya Pal, MD, FACMG from Vanderbilt University Medical Center presents on recent updated to the National Comprehensive Cancer Network (NCCN) Genetic/Familial Breast, Ovarian, and Pancreatic cancer guidelines.
Permanent link to this article: https://inheritedcancer.net/video30724_2/
Below is a featured video from the March 2024 case conference, during which Ben Ho Park, MD, PhD discusses liquid biopsies.
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Two new research studies that 𝗶𝗻𝗰𝗹𝘂𝗱𝗲𝗱 𝗜𝗖𝗔𝗥𝗘 𝗽𝗮𝗿𝘁𝗶𝗰𝗶𝗽𝗮𝗻𝘁𝘀 showed that risk of death is lowered among BRCA1/2 carriers with 1) MRI screening for breast cancer and 2) removal of both ovaries and fallopian tubes. 💡 In the first study, MRI screening greatly lowered the risk of death from breast cancer (hazard ratio of 0.23) with …
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🔬 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 …
Permanent link to this article: https://inheritedcancer.net/post22724/
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 …
Permanent link to this article: https://inheritedcancer.net/post21324/
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 …
Permanent link to this article: https://inheritedcancer.net/post21324_2/
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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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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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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Triple-negative breast cancers, which do not have estrogen, progesterone, or HER2 receptors, can be more serious and difficult to treat. Inherited breast cancer gene mutations, like BRCA1/2, are more common among this type of breast cancer – which is why it is important for those with triple-negative breast cancer to consider getting genetic testing that …
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My paternal grandparents were my heroes. Wise beyond their time, they relished teaching our familythat knowledge is power, health is everything, and love is unconditional. Back then, Prevention healthmagazine and vitamin supplements filled their mailbox and 1960’s exercise guru Jack LaLane, and health foodadvocate Euell Gibbons, beckoned new followers from a talking picture box in …
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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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-fertility-treatment-in-brca-carriers-breast-cancer-risk/
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 …
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/
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 …
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/
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/
On May 9th, 2023, the 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, for those at average (population) risk forbreast cancer. This change in recommendation is due to recent troubling trends, including an increase in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-mammograms-new-u-s-preventive-services-task-force-uspstf-recommendations/
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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There are many different inherited breast cancer genes, and different genes lead to different levels of breast cancer risk:
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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.
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The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on August 28th, 2023, which included: You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
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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.
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Below is a featured video from the August 2023 case conference, during which Sheila Rajagopal, MD, MPH, MSc from the National Cancer Institute presents on using a gene expression-driven algorithm to prioritize competing treatment options for BRCA carriers with breast cancer.
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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.
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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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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.
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A recent study found that Black women had the highest rate of breast cancer deaths in their 40s, compared to White women and women of other races and ethnicities. Use this link to learn more: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2803948?utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_term=041923 Reference: Chen T, et al. JAMA Netw Open. 2023;6(4):e238893. PMID: 37074714.
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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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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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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.
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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 …
Permanent link to this article: https://inheritedcancer.net/post51023/
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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An open study for BRCA1, BRCA2, or PALB2 carriers with stage 1-3 breast cancer is currently recruiting! Learn more about the study by visiting https://vanderbilt.trialstoday.org/trial/NCT04584255
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Findings from a Phase II study to evaluate the use of talazoparib (a PARP inhibitor) in individuals with advanced PALB2-mutation breast cancer showed that it appeared effective in certain patients and appeared safe (with similar adverse events as those previously reported with this drug).1 There are several Phase II trials to evaluate PARP inhibitors in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-breast-cancer-treatment-updates/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-breast-cancer-screening-in-male-brca1-2-carriers/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-lynch-syndrome-colorectal-cancer-risks-revisited/
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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Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, PancreaticJanuary 10th, 2023 (Version 2.2023) focused on male BRCA carriers:› Consider annual mammograms (particularly in BRCA2 carriers) starting at age 50 or 10 years before the earliest male breast cancer in the family (whichever comes first)February 13th, …
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According to a recent Phase II study, Talazoparib may benefit patients with PALB2-associated breast cancer. Findings showed that Talazoparib appeared effective and safe in certain patients with advanced disease. Read the full article at this link: https://www.nature.com/articles/s43018-022-00439-1 Reference: Gruber et al. Nat Cancer. 2022;3(10):1181-1191. PMID: 36253484.
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Check out the latest edition of our B-GREAT newsletter for updates about inherited cancers in the context of racial inequalities in healthcare. You can read the newsletter by visiting 👇https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-December-2022-Newsletter.pdf Please feel free to share with family members, friends, and/or your healthcare providers.
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Why have genetic testing? Genetic testing for inherited cancer can help guide care, including:• Cancer treatment plans, such as chemotherapy, drugs, surgery, and radiation• Cancer screening and prevention Sharing genetic test results can also help family members understand their cancer risks.
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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/
While ATM mutations are generally associated with a 25-30% lifetime risk for breast cancer, emerging information suggests that the risk in those with a c.7570G>C mutation may be higher. Once confirmed, this information may be important to guide cancer screening and risk-reducing surgery decisions. Use this link to learn more: https://onlinelibrary.wiley.com/doi/10.1002/ijc.34305
Permanent link to this article: https://inheritedcancer.net/post40623/
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Lynch Syndrome Carriers with Advanced Uterine Cancer: Treatment with PembrolizumabWomen with Lynch Syndrome are at high risk for uterine cancer. The type of uterine cancer they develop has the tumorcharacteristic of being ‘MSI-H’. A new study indicated treatment with pembrolizumab (Keytruda) resulted in benefit inpatients with MSI-H advanced uterine cancer. Von Hippel-Lindau Patients: Treatment of …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-inherited-cancer-treatment-updates/
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/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-brca1-2-and-male-cancer-risks/
Breast MRIs are advised in women with >20% lifetime risk of breast cancer. A new study showed that breast cancer risks in BRCA1, BRCA2 and PALB2 carriers remained higher than 20%, regardless of whether polygenic risk scores (PRS) were done, suggesting this is of limited help in refining screening. In contrast, PRS downgraded breast cancer …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-polygenic-risk-scores-and-inherited-breast-cancer-genes-brca1-2-palb2-chek2-and-atm/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-li-fraumeni-syndrome-and-cancer-risks/
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. …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-cdh1-and-stomach-cancer/
When I was just 8 years old my mother was diagnosed with a very aggressive breast cancer. I didn’t reallyunderstand the concept of cancer at that age, but I knew what was happening was terrible. After manysurgeries and treatments, she passed away 2 years later at the age of 35. There was no hereditary cancertesting …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-community-spotlight/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-atm-associated-cancer-risks/
Using information from twelve prior population-based studies, a modeling analysis was done to look at when to start mammography and breast MRI in females with inherited mutations in genes including ATM and CHEK2. Overall, findings showed that starting annual MRI screening between age 30 to 35 and mammography at age 40 may lower death from …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-screening-treatment-updates-new-modeling-analysis-about-breast-cancer-screening-in-atm-and-chek2-carriers/
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-which-genes-are-confirmed-as-inherited-breast-cancer-genes/
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 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-brca1-2-cancer-risk-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 – Released September 7th, 2022› Testing eligibility based on personal history of any type of breast cancer in females was updated from age ≤45 to ≤50 making more females with breast cancer eligible for testing …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-national-comprehensive-cancer-network-nccn-guidelines-updates/
A recent study found use of a polygenic risk score (PRS) modified the estimated riskof breast cancer among both carriers and non-carriers of inherited breast cancerpredisposition genes. Taking PRS into account, more than 95% of BRCA1, BRCA2,and PALB2 carriers had greater than 20% lifetime risks of breast cancer. In contrast,among ATM and CHEK2 carriers without …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-polygenic-risk-scores-and-breast-cancer-risks-brca1-2-palb2-chek2-atm-and-beyond/
Did you know female BRCA1, BRCA2, CHEK2, or PALB2 carriers have much higher risks for contralateral breast cancer?This information is important to guide cancer screening and risk reduction strategies. Use the link in bio to learn more!
Permanent link to this article: https://inheritedcancer.net/post40123/
Early-stage, high-risk breast cancer in BRCA carriers: Results of the highly awaited phase 3 OlympiA trial showed promising results for EARLY STAGE (i.e., localized Stage 2-3) high-risk breast cancer patients with a BRCA mutation who were treated with a PARP inhibitor (olaparib) in the adjuvant setting (i.e., AFTER surgery).1 Early-stage breast cancer in this trial …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-inherited-cancer-treatment-updates/
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 …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-modifying-risks-in-brca-carriers/
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 …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-breast-cancer-risks-remain-high-in-palb2-brca/
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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Breast, Ovarian, and Pancreatic Guidelines V.1.2022: Released August 11th, 2021 Colorectal Cancer Guidelines V.1.2021: Released May 11th, 2021 Check out the full NCCN guidelines by creating a FREE account at www.nccn.org
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-updates-to-nccn-genetic-familial-high-risk-assessment/
Did you know that BRCA1/2 are amongst the most well-studied genes, yet most BRCA1/2 studies have been done in White populations? This means our knowledge about genes and risks comes primarily from White populations. • Some research suggests that BRCA1/2 gene mutations may be more common in young Black women with breast cancer. • Even …
Permanent link to this article: https://inheritedcancer.net/post12423-2/
The National Comprehensive Cancer Network (NCCN) just released updated breast, ovarian, and pancreatic cancer guidelines which included updated breast cancer screening recommendations for male BRCA carriers (particularly male BRCA2 carriers). It is now recommended that male BRCA carriers consider annual mammograms starting at age 50 or 10 years before the earliest male breast cancer in …
Permanent link to this article: https://inheritedcancer.net/post12423/
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 …
Permanent link to this article: https://inheritedcancer.net/post11423/
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 …
Permanent link to this article: https://inheritedcancer.net/post120822/
The Expert Panel Consensus, chaired by the Society of Surgical Oncology with the American Society of Clinical Oncology and the American Society of Radiation Oncology, published new recommendations for hereditary breast cancer treatment. Learn more at https://pubmed.ncbi.nlm.nih.gov/32898012/ Reference: Corso & Magnoni. Eur J Cancer Prev. 2021;30(4):311-314. PMID: 32898012.
Permanent link to this article: https://inheritedcancer.net/post110822/
National Mammography Day is observed annually on the third Friday of every October. Today acts as reminder to everyone that early detection is the best defense against breast cancer!
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October 13th is Metastatic Breast Cancer Awareness Day. Today is a day to raise awareness about the importance of furthering cancer research.
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On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In these new guidelines, genetic testing eligibility based on age at breast cancer diagnosis in females was updated from ≤ 45 to ≤ 50 making more females with breast cancer eligible for testing regardless of family history …
Permanent link to this article: https://inheritedcancer.net/post101022/
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/
Below you may watch a featured video from the October 2022 Genetics Case Conference in which ICARE Principal Investigator, Tuya Pal, MD, discusses recent updates to the National Comprehensive Cancer Network (NCCN) guidelines.
Permanent link to this article: https://inheritedcancer.net/video100622/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In these new guidelines, the age to start breast MRI screening in female ATM and CHEK2 carriers was updated from age 40 to 30-35 making more females eligible for screening at an earlier age.Check out the new …
Permanent link to this article: https://inheritedcancer.net/post100222/
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/
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/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In this new version, a table was added at the end of the guidelines to summarize inherited cancer content across 𝗮𝗹𝗹 NCCN guidelines, including live links to the guidelines and sections referenced (see page 54 on the …
Permanent link to this article: https://inheritedcancer.net/post92222/
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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On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines.Check out the new guidelines at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91222/
According to a recent study, a bilateral prophylactic nipple-sparing mastectomy appears to be at least equally as safe as other types of mastectomy for preventing breast cancer. Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/34342702/Reference: Stanek et al. Aesthetic Plast Surg. 2022 Apr;46(2):706-711. PMID: 34342702.
Permanent link to this article: https://inheritedcancer.net/post82922/
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/
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 …
Permanent link to this article: https://inheritedcancer.net/post62122/
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 …
Permanent link to this article: https://inheritedcancer.net/post51722/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, ICARE Founder, Dr. Tuya Pal, and her oncology colleague, Dr. Sonya Reid, discuss the types of inherited breast cancer and whether having an inherited form of breast cancer affects survival.Check …
Permanent link to this article: https://inheritedcancer.net/post42922/
A new study found that adjuvant olaparib significantly extended survival in BRCA1/2 carriers with HER2-negative high-risk early-stage breast cancer. Learn more at the following link: https://www.healio.com/news/hematology-oncology/20220323/adjuvant-olaparib-prolongs-survival-for-certain-patients-with-early-breast-cancer
Permanent link to this article: https://inheritedcancer.net/post41922/
A new study suggests that annual breast MRI screening may reduce deaths from breast cancer by half in women with ATM, CHEK2 and PALB2 gene mutations. The data suggests starting with annual breast MRIs between the ages of 30 to 35, and adding annual mammograms starting at age 40. Read the full article to learn …
Permanent link to this article: https://inheritedcancer.net/post40122/
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/
Did you know breast cancer surpassed lung cancer as the leading cause of cancer death among Black women in the United States? Although Black women are at a lower risk for developing breast cancer, they are 41% more likely to die of breast cancer compared with White women.Future research is needed to reverse course, through …
Permanent link to this article: https://inheritedcancer.net/post31722/
On March 11th, the Food and Drug Administration (FDA) approved olaparib (Lynparza) for the adjuvant treatment of BRCA1/2 carriers with human epidermal growth factor receptor 2 (HER2)-negative, high-risk early breast cancer who have been treated with neoadjuvant or adjuvant chemotherapy.Learn more at 👇https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-adjuvant-treatment-high-risk-early-breast-cancer
Permanent link to this article: https://inheritedcancer.net/post31522/
A recent study found there were BETTER short-term outcomes among women with:• triple-negative breast cancer and BRCA1 or BRCA2 mutations• ovarian cancer and BRCA2, BRIP1, RAD51C, or ATM mutationsThese findings may be reassuring to individuals with inherited gene mutations related to breast and ovarian cancer. Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/34373918/Reference: Kurian et al. J …
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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/
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A new study demonstrated that breast cancer pathology and other clinical features differ by inherited breast cancer gene. Read the full article to learn more!https://jamanetwork.com/journals/jamaoncology/fullarticle/2788577Reference: Breast Cancer Association Consortium. JAMA Oncol. 2022 Jan 27. PMID: 35084436
Permanent link to this article: https://inheritedcancer.net/post20122/
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/
A recent article by Drs. Sonya Reid, Tuya Pal, and Lucy Spalluto, and Katie Lang, MS, CGC and Anne Weidner, MPH of the ICARE team, has just been published with @SpringerNature in 𝘉𝘳𝘦𝘢𝘴𝘵 𝘊𝘢𝘯𝘤𝘦𝘳 𝘙𝘦𝘴𝘦𝘢𝘳𝘤𝘩 𝘢𝘯𝘥 𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵. This article outlines the importance of genetic services and follow-up care for hereditary breast cancer, as well as …
Permanent link to this article: https://inheritedcancer.net/post12622/
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/
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 …
Permanent link to this article: https://inheritedcancer.net/post122321/
FDA granted priority review to Olaparib for adjuvant treatment of certain patients with high-risk breast cancer. This designation applies to use of the agent by patients with BRCA-mutated, HER2-negative, high-risk early breast cancer who receive chemotherapy before or after surgery. For additional information, visit: https://tinyurl.com/healioFDAapproval
Permanent link to this article: https://inheritedcancer.net/post120621/
A recent article 𝗹𝗲𝗱 𝗯𝘆 𝗗𝗿𝘀. 𝗦𝗼𝗻𝘆𝗮 𝗥𝗲𝗶𝗱 𝗮𝗻𝗱 𝗧𝘂𝘆𝗮 𝗣𝗮𝗹 𝗼𝗳 𝘁𝗵𝗲 𝗜𝗖𝗔𝗥𝗘 𝘁𝗲𝗮𝗺, published in 𝘉𝘳𝘦𝘢𝘴𝘵 𝘊𝘢𝘯𝘤𝘦𝘳 𝘙𝘦𝘴𝘦𝘢𝘳𝘤𝘩 𝘢𝘯𝘥 𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵, outlines the impact of race and molecular subtype on HR+, HER2- breast cancer survival. Check out the full article at https://link.springer.com/content/pdf/10.1007/s10549-021-06342-0.pdf Reference: Reid et al. Breast Cancer Res Treat. 2021 Oct;189(3):845-852. PMID: 34331630.
Permanent link to this article: https://inheritedcancer.net/post120321/
The National Comprehensive Cancer Network (NCCN) released new guidelines on August 11th 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/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91021/
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/
For additional information, read the Journal of Clinical Oncology article at the link below 👇 https://ascopubs.org/doi/10.1200/JCO.20.01200
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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, …
Permanent link to this article: https://inheritedcancer.net/post81921/
For additional information, read the updated American Society of Clinical Oncology (ASCO) recommendation (released June 15th, 2021) at the following link: https://www.asco.org/practice-patients/guidelines/breast-cancer?intcmp=ws_ascoorg_gdlns_hereditarybreastcancer_site_pressrelease_061621____#/143725
Permanent link to this article: https://inheritedcancer.net/post81021/
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/
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/
For more information, view the article at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2776805
Permanent link to this article: https://inheritedcancer.net/post61521/
For more information view the article at: https://www.nejm.org/doi/full/10.1056/NEJMoa2105215
Permanent link to this article: https://inheritedcancer.net/post61121/
In recognition of 𝗪𝗼𝗺𝗲𝗻’𝘀 𝗛𝗲𝗮𝗹𝘁𝗵 𝗠𝗼𝗻𝘁𝗵, listen to our colleague, Dr. Sonya Reid, talk about the importance of mammography for the early detection of breast cancer! To learn more, check out the American Cancer Society’s Recommendations for the Early Detection of Breast Cancer at: https://www.cancer.org/cancer/breast-cancer/screening-tests-and-early-detection/american-cancer-society-recommendations-for-the-early-detection-of-breast-cancer.html
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For more information, view the JAMA Oncology article available at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2776761
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For more information, read the recently published ASCO Daily News editorial led by 𝗗𝗿. 𝗦𝗼𝗻𝘆𝗮 𝗥𝗲𝗶𝗱 from Vanderbilt University Medical Center, which focused on racial disparities in breast cancer clinical trial enrollment: https://dailynews.ascopubs.org/do/10.1200/ADN.21.200499/full/
Permanent link to this article: https://inheritedcancer.net/post42321/
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/
For more information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151
Permanent link to this article: https://inheritedcancer.net/post41321/
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/
For additional information visit: https://www.onclive.com/view/adjuvant-olaparib-showcases-idfs-improvement-in-brca-high-risk-early-breast-cancer
Permanent link to this article: https://inheritedcancer.net/post22321/
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Permanent link to this article: https://inheritedcancer.net/1nlw2021/
It has never been more urgent to ensure that advances in genomic technologies do not further widen existing cancer health disparities. In the fall of 2020, the American Association for Cancer Research (AACR) put forth a report focused on cancer health disparities, in which they highlighted several issues.1 Notably, disparities in inherited cancer care were …
Permanent link to this article: https://inheritedcancer.net/5nlw2021/
A study of 159 women, including BRCA1/2 carriers, who had a bilateral mastectomy with reconstruction and underwent breast MRI screening, showed few women had detection of breast cancer through MRI after their bilateral mastectomy. These results support the recommendation that BRCA1/2 carriers with or without breast cancer who have a bilateral mastectomy with reconstruction do …
Permanent link to this article: https://inheritedcancer.net/8nlw2021/
Results of a recently published study suggested that pregnancy after breast cancer in BRCA carriers does not lead to a worse outcome in women or their fetuses.1 This information is reassuring for BRCA carriers who have had a prior diagnosis of breast cancer and are considering having children. In another study among female BRCA carriers …
Permanent link to this article: https://inheritedcancer.net/3nlw2021/
Over the last several months, the American Society of Clinical Oncology published a number of guidelines related to the use of PARP inhibitors among those with BRCA-associated cancers, including guidelines focused on ovarian cancer,1 metastatic pancreatic cancer,2 and breast cancer.3 Additionally, costs of drugs also have great potential to influence policy, highlighting the importance of …
Permanent link to this article: https://inheritedcancer.net/7nlw2021/
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/
The Male Breast Cancer Global Alliance shares stories from male breast cancer survivors all over the world. To learn more and find resources for affected men and their families, please visit www.mbcglobalalliance.org. The Male Breast Cancer Global Alliance also developed printable and shareable cards in over 20 languages outlining the proper way to do self-breast …
Permanent link to this article: https://inheritedcancer.net/post12621/
Approximately 4,000 women with breast cancer were tested for mutations in nine breast cancer genes – 6.2% had mutations in at least one of the nine genes, and 2.7% had mutations in either 𝘽𝙍𝘾𝘼1 or 𝘽𝙍𝘾𝘼2. Comparisons between women who did versus did not meet National Comprehensive Cancer Network (NCCN) guidelines for testing showed that: …
Permanent link to this article: https://inheritedcancer.net/post122920/
Abstract Background: The risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women …
Permanent link to this article: https://inheritedcancer.net/pub121420/
For further information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151
Permanent link to this article: https://inheritedcancer.net/post121120/
Below you may watch a featured video from the December 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/video121020/
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/
For further information, view the article available at: https://www.sciencedirect.com/…/pii/S0002929720303219
Permanent link to this article: https://inheritedcancer.net/post120120/
Check out the original article by visiting: https://pubmed.ncbi.nlm.nih.gov/32673153/
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The American Society of Clinical Oncology (ASCO) published updated guidelines for the management of hereditary breast cancer for the following gene carriers: 𝘽𝙍𝘾𝘼1/2 • Consider breast-conserving therapy • Consider nipple-sparing mastectomy, if medically appropriate • Advanced breast cancer: ⫸ PARP inhibitors (olaparib, talazoparib) preferred over non-platinum single agent chemotherapy ⫸ Platinum agents are recommended …
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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/
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. …
Permanent link to this article: https://inheritedcancer.net/post111020/
Abstract Identification of inherited breast cancer may guide care. These benefits can be amplified through communication of genetic test results with at-risk family members and subsequent family testing (FT). Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about family communication (FC) of genetic test results and FT. Comparisons …
Permanent link to this article: https://inheritedcancer.net/pub111020/
Brooke Thomas has leaned on 12 years of experience as a medical social worker and found ways to stay positive and upbeat through it all – and she has a lot to be positive about these days, thanks to an amazing response to her treatment as part of a clinical trial at Vanderbilt-Ingram Cancer Center. …
Permanent link to this article: https://inheritedcancer.net/post110620/
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% …
Permanent link to this article: https://inheritedcancer.net/post103020/
For further information, view the article available at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2767768
Permanent link to this article: https://inheritedcancer.net/post102720/
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 …
Permanent link to this article: https://inheritedcancer.net/post102320/
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/
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; …
Permanent link to this article: https://inheritedcancer.net/post101620/
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 …
Permanent link to this article: https://inheritedcancer.net/post100920/
Permanent link to this article: https://inheritedcancer.net/video100820/
Among BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that did not progress), compared to those treated with ONLY chemotherapy. To read the full article visit: https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(20)30447-2/fulltext [This finding was previously outlined last year …
Permanent link to this article: https://inheritedcancer.net/post100620/
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. …
Permanent link to this article: https://inheritedcancer.net/post100220/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing criteria by cancer type as follows: Breast Cancer: Broadened to include relatives with ALL grades of prostate cancer (not just high-grade) Now having multiple breast cancer diagnoses is NOT dependent on whether the diagnoses were …
Permanent link to this article: https://inheritedcancer.net/post91520/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020. 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/post91420/
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/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to breast cancer risk management recommendations by gene as follows: NBN – high-risk breast screening was removed as there is insufficient evidence to support high cancer risks BARD1 – added consideration for high-risk breast screening starting at age 40 …
Permanent link to this article: https://inheritedcancer.net/post91020/
Check out Vanderbilt’s article about genetic testing considerations at: https://discover.vumc.org/2020/02/genetic-testing-considerations-for-breast-cancer-patients/ Check out the original document from the American College of Medical Genetics and Genomics at: https://www.nature.com/articles/s41436-019-0712-x
Permanent link to this article: https://inheritedcancer.net/post90820/
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 …
Permanent link to this article: https://inheritedcancer.net/post82820/
A study of 159 women, including BRCA carriers, who had bilateral mastectomy with reconstruction, underwent breast MRI screening. The results showed few women had detection of breast cancer through MRI, after their bilateral mastectomy. These results support the recommendation against screening MRI in women who have had bilateral mastectomy with reconstruction due to a diagnosis …
Permanent link to this article: https://inheritedcancer.net/post81820/
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 …
Permanent link to this article: https://inheritedcancer.net/4nls2020/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: BRCA1/2 Carriers: Breast Cancer: For those with later stage or metastatic breast cancer, the FDA currently has approvals for the use …
Permanent link to this article: https://inheritedcancer.net/2nls2020/
Testing for inherited cancer among breast cancer patients has tremendous potential to guide appropriate care following testing. Yet, a number of efforts suggest that women are not consistently receiving care according to current national guidelines based on their genetic test result. In fact, results from studies suggest many women for whom risk-reducing mastectomy would not …
Permanent link to this article: https://inheritedcancer.net/3nls2020/
We are here to help! Our followers asked us to provide information about screening resources for women with hereditary breast cancer. We would like to make folks aware about a CDC program that provides free breast cancer screening for women who are uninsured and underinsured. Check out more information at: https://www.cdc.gov/cancer/nbccedp/
Permanent link to this article: https://inheritedcancer.net/post81120/
Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2768011
Permanent link to this article: https://inheritedcancer.net/post80720/
A recently published study based on data from our participants showed that few young Black women with breast cancer see a genetic counselor AND those with insurance are LESS likely to see a genetic counselor. For more information, check out the full study at: https://www.nature.com/articles/s41436-020-0762-0
Permanent link to this article: https://inheritedcancer.net/post80420/
A recently published study based on data including our participants identified genes that predispose African American patients to breast cancer. For more information, check out the full study at: https://academic.oup.com/jnci/article/doi/10.1093/jnci/djaa040/5838706.
Permanent link to this article: https://inheritedcancer.net/post80320/
[ngg src=”galleries” ids=”1″ display=”basic_slideshow” arrows=”1″ show_thumbnail_link=”0″]It is important to talk about racial inequalities in healthcare as it affects the care received among Black patients. Through our research efforts, we not only want to address the issue of racism but also think about ways to make healthcare more equitable. A recently published study including our research …
Permanent link to this article: https://inheritedcancer.net/post72120/
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 …
Permanent link to this article: https://inheritedcancer.net/post71720/
BRCA1/2 and other gene mutation carriers with early stage breast cancer are not always receiving cancer treatment as recommended by national guidelines. Even though more and more people have been tested for hereditary cancer over the years, using this information accurately to guide treatment has not been as successful. These findings highlight the need for …
Permanent link to this article: https://inheritedcancer.net/post71020/
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 …
Permanent link to this article: https://inheritedcancer.net/pub70820/
In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Winter 2016 ICARE Newsletter is Mari-Lynn Slayton, who was found to have a PALB2 mutation after two breast cancer diagnoses. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post70220/
Asian, Hispanic, and Black women with breast cancer had higher rates of variants of uncertain significance (VUS) on genetic test results for hereditary cancer genes compared to White women with breast cancer according to a recent study. Check out the full article at https://link.springer.com/article/10.1007%2Fs13187-019-01646-8
Permanent link to this article: https://inheritedcancer.net/post62620/
In a study of 914 women with different breast cancer subtypes, overall pathologic complete response rates were: Higher in those with BRCA1/2 mutations (60.4% versus 46.7%) No differences were seen in those with mutations in other inherited cancer genes Among patients with triple-negative breast cancer, BRCA1/2 mutations had highest response rates to treatment in both …
Permanent link to this article: https://inheritedcancer.net/post61920/
Through a randomized phase 2 study (called the INFORM trial) among BRCA1/2 carriers with breast cancer, cisplatin was no better in inducing pathologic complete remission compared to AC. The pathologic complete remission rate was 18% for cisplatin and 26% for AC. Cisplatin is not better than other chemotherapy for induction therapy for breast cancers in …
Permanent link to this article: https://inheritedcancer.net/post61220/
In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Winter 2017 ICARE Newsletter is Christy Mattey, who was found to have a CHEK2 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post60920/
June is Cancer Survivor Month! In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Summer 2017 ICARE Newsletter is Terry Arnold, who was found to have a BRCA1 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post60220/
A new article was recently published based on data from BRCA1/2, PALB2, CHEK2, and ATM carriers in ICARE. Findings suggest potential overtreatment through risk-reducing surgery among women with pathogenic/likely pathogenic variants in breast cancer genes. This highlights the importance of promoting guideline-adherent, risk-appropriate care. Check out the full article at https://rdcu.be/b4mbg
Permanent link to this article: https://inheritedcancer.net/post52620/
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 …
Permanent link to this article: https://inheritedcancer.net/pub52220/
The National Comprehensive Cancer Network (NCCN) currently recommends an annual breast MRI and an annual mammography for high-risk women (lifetime breast cancer risk at or above 20%). Among women at high risk for breast cancer, MRI detected breast cancer at an earlier stage than mammograms. Women with BRCA1/2 and TP53 were NOT included in this …
Permanent link to this article: https://inheritedcancer.net/post51520/
Abstract Objective: To examine the patterns and covariates of benefit finding over time among young Black breast cancer (BC) survivors. Methods: Black women (N = 305) with invasive BC diagnosed ≤50 years were recruited an average of 1.9 years post-BC diagnosis. Participants completed self-report questionnaires of benefit finding, social support, and illness intrusions at three …
Permanent link to this article: https://inheritedcancer.net/pub51120/
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 …
Permanent link to this article: https://inheritedcancer.net/post50520/
No abstract available Conley C, et al. Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors. Breast J. 2020 Oct;26(10):2112-2114. Epub 2020 Apr 22. PMID: 32319712.
Permanent link to this article: https://inheritedcancer.net/pub42220/
Results from a population-based study of over 20,000 women from SEER registries of Georgia and California diagnosed with stage 0 to stage III breast cancer between 2014 and 2016 tested for inherited breast cancer were recently published. Findings suggest that women who test positive for certain mutations receive certain patterns of treatment. These patterns of …
Permanent link to this article: https://inheritedcancer.net/post41020/
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 …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2020/
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 …
Permanent link to this article: https://inheritedcancer.net/6nlw2020/
There were significant updates and restructuring of the guidelines, with some highlights included below: Substantial reorganization of the guidelines as follows: Now organized by organ site, rather than primarily by certain high penetrance genes Focused efforts to simplify genetic testing criteria Only one flow diagram included, to outline the ‘genetic testing process’ Following scenarios now …
Permanent link to this article: https://inheritedcancer.net/1nlw2020/
Abstract Purpose: All women diagnosed with breast cancer (BC) ≤age 50 should be referred for genetic counseling (GC) and testing. We sought to compare differences in provider practices and access across a racially and ethnically diverse population of young BC survivors. Methods: A registry-based sample of women diagnosed with invasive BC ≤age 50 from 2009 to 2012 …
Permanent link to this article: https://inheritedcancer.net/pub21820/
BRCA1/2 have distinct characteristics and patterns of spread. A recent study evaluated the characteristics of BRCA1/2 carriers and found that 73% ofBRCA1-associated breast cancers were triple negative; and 72% of BRCA2-associated breast cancers were hormone receptor positive. There were also distinct pattern of spread of breast cancer, with BRCA1 carriers more likely to experience lung …
Permanent link to this article: https://inheritedcancer.net/post21320/
Based on studies that show benefits of estrogen and androgen blockers in reducing breast cancer risk in high-risk women, the United States Preventative Service Task Force (USPSTF) recommends that clinicians offer risk-reducing medications to women at increased risk for breast cancer; however, they recommend against routine use of these medications in average-risk women. Hormone receptor …
Permanent link to this article: https://inheritedcancer.net/post21120/
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 …
Permanent link to this article: https://inheritedcancer.net/pub12220/
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 …
Permanent link to this article: https://inheritedcancer.net/post11420/
In a study of 5000 healthy female BRCA1/2 carriers (without a breast cancer diagnosis): BRCA1 carriers: after an average of over 10 years follow-up, survival was higher in those who had bilateral mastectomy (99.7%) compared to those who had breast screening through mammograms and breast MRIs (93%). BRCA2 carriers: no significant differences were seen between …
Permanent link to this article: https://inheritedcancer.net/post11020/
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/
Abstract Despite higher incidence and mortality of breast cancer among younger Black women, genetic testing outcomes remain severely understudied among Blacks. Past research on disclosure of genetic testing results to family members has disproportionately focused on White, educated, high socioeconomic status women. This study addresses this gap in knowledge by assessing (a) to whom Black …
Permanent link to this article: https://inheritedcancer.net/pub10720/
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. …
Permanent link to this article: https://inheritedcancer.net/post121619/
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 …
Permanent link to this article: https://inheritedcancer.net/pub121619/
The American College of Medical Genetics and Genomics (ACMG) put forth a Points-to-Consider document: “Is there Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for all Breast Cancer Patients?” The document discusses: 1) Current data to support testing in breast cancer patients …
Permanent link to this article: https://inheritedcancer.net/post121319/
No abstract available Pal T, et al. Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Apr;22(4):681-685. Epub 2019 Dec 13. PMID: 33455826.
Permanent link to this article: https://inheritedcancer.net/pub121319/
Below you may watch a featured video from the December 2019 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines.
Permanent link to this article: https://inheritedcancer.net/video121219/
Did you know? PROs are impacting treatment advances in metastatic breast cancer. Olaparib increased progression-free survival among BRCA carriers with metastatic HER2- breast cancer. Thanks to patient reported outcomes, a new study now suggests it also improved patients’ quality of life! Check it out the new article published in October 2019 directly at https://www.ncbi.nlm.nih.gov/pubmed/31446213!
Permanent link to this article: https://inheritedcancer.net/post12819/
We are excited to share the latest version of the NCCN Genetic/Familial Breast, Ovarian and Pancreatic Guidelines (V1.2020), which were just updated. Some of the changes made include: PALB2 was added as a high penetrance gene (similar to BRCA1, BRCA2, CDH1, PTEN and TP53) It is appropriate to consider risk reducing mastectomy for cancer risk management …
Permanent link to this article: https://inheritedcancer.net/post12419/
Abstract Purpose: Prognostic value of Oncotype DX Breast Recurrence Score (RS) in male patients with breast cancer is understudied. We evaluated associations of RS with overall mortality in male patients with breast cancer and compared it with female counterparts. Experimental design: With a cohort of 848 male and 110,898 female patients with breast cancer identified from the …
Permanent link to this article: https://inheritedcancer.net/pub112019/
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/
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 …
Permanent link to this article: https://inheritedcancer.net/post11119/
Did you know? National practice guidelines currently recommend ALL women with metastatic (HER2-) breast cancer to get genetic testing for inherited cancer (including BRCA1/2 testing), because it can guide eligibility for treatment with PARP inhibitors. A new study led by our colleague at the Vanderbilt-Ingram Cancer Center, Dr. Ben Park, suggests that more women with …
Permanent link to this article: https://inheritedcancer.net/post110719/
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 …
Permanent link to this article: https://inheritedcancer.net/pub110119/
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 …
Permanent link to this article: https://inheritedcancer.net/post102919/
BRCA1/2 carriers may benefit from physical activity to reduce breast cancer risks, just like women in the general population! We know that women in the general population benefit from physical activity to reduce their breast cancer risk, but a recent study showed that this benefit also extends to those with a BRCA1/2 mutation and those with …
Permanent link to this article: https://inheritedcancer.net/post102819/
Did you know? Although BRCA testing has been around for over TWO decades, not all populations have benefitted equally from testing. In fact, our previous research has shown that black patients are less aware of BUT interested in genetic testing…when they know about it. In addition, healthcare providers are less likely to identify and suggest …
Permanent link to this article: https://inheritedcancer.net/post102419/
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 …
Permanent link to this article: https://inheritedcancer.net/post102319/
Monotherapy with PARP inhibitors is FDA-approved for patients with metastatic breast cancer with BRCA mutations. BUT, does adding additional drugs (called ‘combination therapy’) help? In BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that …
Permanent link to this article: https://inheritedcancer.net/post101819/
New benefits from a PARP inhibitor, talazoparib, among BRCA carriers with early stage breast cancer. The current FDA approvals for the use of PARP inhibitors is limited to women with metastatic (stage IV) breast cancer. These drugs are being tested in early stage breast cancer to shrink down the tumor (called neoadjuvant treatment) before surgery …
Permanent link to this article: https://inheritedcancer.net/post101519/
Did you know? Beyonce’s father, Matthew Knowles, was diagnosed with breast cancer. He states, “we used to think this was only an issue for women, but this is male or female.” According to CBS news, “he is hoping that sharing his story as man with breast cancer will shine a light on the risk men …
Permanent link to this article: https://inheritedcancer.net/post10619/
Abstract Importance: Survival differences between male and female patients with breast cancer have been reported, but the underlying factors associated with the disparity have not been fully studied. This understanding is fundamental to developing strategies for cancer treatment and survivorship care. Objective: To compare mortality between male and female patients with breast cancer and quantitatively evaluate the …
Permanent link to this article: https://inheritedcancer.net/pub91919/
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 …
Permanent link to this article: https://inheritedcancer.net/6nls2019/
The U.S. Preventive Services Task Force (USPSTF) came out with new genetic testing guidelines for the BRCA1/2 genes, which has garnered substantial media attention. This task force consists of a team of primary care and preventive medicine healthcare experts to lower the chance of a conflict of interest (which is also the reason that subspecialty …
Permanent link to this article: https://inheritedcancer.net/5nls2019/
Abstract Narrative messages may be superior to didactic messages when providing educational information due to their natural format for information sharing, ability to engage audiences, and engender positive thoughts about the message. Although narrative messages are gaining popularity in health promotion, little guidance exists regarding the development phase. Our team created a psychosocial narrative video …
Permanent link to this article: https://inheritedcancer.net/pub41819/
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 …
Permanent link to this article: https://inheritedcancer.net/pub41119/
Abstract Objective: Breast cancer (BC) survivors with a genetic mutation are at higher risk for subsequent cancer; knowing genetic risk status could help survivors make decisions about follow-up screening. Uptake of genetic counseling and testing (GC/GT) to determine BRCA status is low among high risk BC survivors. This study assessed feasibility, acceptability, and preliminary efficacy of …
Permanent link to this article: https://inheritedcancer.net/pub41119-2/
Treatment among patients with advanced or metastatic breast cancer: A PARP inhibitor (talazoparib) was approved by the FDA on October 16, 2018 for BRCA carriers with HER2-negative locally advanced or metastatic breast cancer, based on results of the EMBRACA trial outlined in the last ICARE newsletter. Litton JK, et al. N Engl J Med. 2018 …
Permanent link to this article: https://inheritedcancer.net/1nlw2019/
Prediction of breast cancer risk is important to identify those at highest and lowest risks, to help guide screening. A previously developed risk algorithm called Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) was recently extended to include truncating mutations in the BRCA genes, PALB2, CHEK2, and ATM. This online risk …
Permanent link to this article: https://inheritedcancer.net/11nlw2019/
Abstract Aims: This study compared facilitators and barriers to genetic testing and determined awareness about the Genetic Information Nondiscrimination Act (GINA) across young Hispanic and non-Hispanic white (NHW) breast cancer (BC) survivors. Materials and methods: Women diagnosed with BC of age ≤50 years in 2009-2012 were recruited through the Florida State Cancer Registry to complete a questionnaire. …
Permanent link to this article: https://inheritedcancer.net/pub12419/
Permanent link to this article: https://inheritedcancer.net/1nls2018/
In a Phase 3 clinical trial among BRCA carriers with advanced breast cancer, an oral PARP Inhibitor (talazoparib) was compared to standard chemotherapy. Among those who received the PARP inhibitor, risk of disease progression or death was 46% lower, and the response rate was double. Furthermore, the side effect profile, quality-of-life measures, and breast cancer …
Permanent link to this article: https://inheritedcancer.net/8nls2018/
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 …
Permanent link to this article: https://inheritedcancer.net/3nls2018/
A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …
Permanent link to this article: https://inheritedcancer.net/7nls2018/
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 …
Permanent link to this article: https://inheritedcancer.net/5nls2018/
(Version 1.2018, posted Oct. 3, 2017) Metastatic prostate cancer was added as an indication for evaluation and testing for the BRCA1 and BRCA2 genes Among BRCA1, BRCA2, TP53 and PTEN carriers, women between ages 25-29 may consider having an annual mammogram with consideration of tomosynthesis if a breast MRI is not available. Among female BRCA2 …
Permanent link to this article: https://inheritedcancer.net/1nlw2018/
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 …
Permanent link to this article: https://inheritedcancer.net/4nlw2018/
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 …
Permanent link to this article: https://inheritedcancer.net/8nlw2018/
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 …
Permanent link to this article: https://inheritedcancer.net/1nls2017/
Over the last decade, a new class of drugs called “PARP Inhibitors” has been evaluated as a form of targeted treatment among BRCA carriers. Results were recently reported from a Phase 3 clinical trial among BRCA carriers with HER2-negative metastatic breast cancer who received two or less prior chemotherapy regimens for their metastatic disease. Study …
Permanent link to this article: https://inheritedcancer.net/4nls2017/
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 …
Permanent link to this article: https://inheritedcancer.net/3nls2017/
Permanent link to this article: https://inheritedcancer.net/2nls2017/
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 …
Permanent link to this article: https://inheritedcancer.net/8nlw2017/
Additional guidance pertaining to cancer risk management was provided in the most recent version of the NCCN Guidelines for inherited breast and ovarian cancer. These guidelines now include an expanded table outlining cancer risks and management for each gene, taking into account the age at initiation of each risk management modality as well as footnotes …
Permanent link to this article: https://inheritedcancer.net/1nlw2017/
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 …
Permanent link to this article: https://inheritedcancer.net/7nlw2017/
The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called “multi-gene panel testing”), the Breast/Ovarian and Colorectal Panels sought to provide …
Permanent link to this article: https://inheritedcancer.net/1nls2016/
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) …
Permanent link to this article: https://inheritedcancer.net/6nls2016/
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 …
Permanent link to this article: https://inheritedcancer.net/8nls2016/
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 …
Permanent link to this article: https://inheritedcancer.net/5nlw2016/
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 …
Permanent link to this article: https://inheritedcancer.net/3nlw2016/
Over the last few months, a number of additional genes associated with inherited cancer predisposition have been identified. A few of these genes include: 1) the RECQL gene which appears to be another rare gene involved in inherited breast cancer1; 2) the SMAD9 gene associated with hamartomatous polyposis and ganglioneuromas of the intestinal tract2; 3) …
Permanent link to this article: https://inheritedcancer.net/2nls2015/
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. …
Permanent link to this article: https://inheritedcancer.net/4nls2015/
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 …
Permanent link to this article: https://inheritedcancer.net/3nls2015/
Permanent link to this article: https://inheritedcancer.net/1nls2015/
Genetic/Familial High-Risk Assessment: Breast and Ovarian Guidelines For breast cancer screening in BRCA carriers, yearly MRI is recommended starting at age 25; mammograms may be considered in instances where MRI is unavailable or individualized based on earliest age of onset in the family. From age 30-75, annual mammogram and breast MRI is recommended. Above age …
Permanent link to this article: https://inheritedcancer.net/5nlw2015/
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 …
Permanent link to this article: https://inheritedcancer.net/1nlw2015/
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 …
Permanent link to this article: https://inheritedcancer.net/3nlw2015/
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 …
Permanent link to this article: https://inheritedcancer.net/2nls2014/
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. …
Permanent link to this article: https://inheritedcancer.net/3nls2014/
There have been suggestions that Tamoxifen may reduce risks for contralateral breast cancer (i.e., breast cancer in the other breast) in BRCA carriers if taken after the initial breast cancer diagnosis, based mainly on retrospective studies. Only one prospective study has looked at this question, and showed that Tamoxifen may be useful in BRCA2, but …
Permanent link to this article: https://inheritedcancer.net/2nlw2014/
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; …
Permanent link to this article: https://inheritedcancer.net/4nlw2014/
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 …
Permanent link to this article: https://inheritedcancer.net/1nlw2014/
Recently, the USPSTF released updated draft guidelines in April 2013 (from those previously published in 2005) for inherited breast and ovarian cancer due to germline BRCA1 and BRCA2 gene mutations.1 USPSTF is comprised of primary care providers who review the available literature and issue guidelines about risk assessment, testing and management based on available evidence. …
Permanent link to this article: https://inheritedcancer.net/4nls2013/
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 …
Permanent link to this article: https://inheritedcancer.net/5nls2013/
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 …
Permanent link to this article: https://inheritedcancer.net/6nls2013/
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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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 …
Permanent link to this article: https://inheritedcancer.net/4nls2012/
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 …
Permanent link to this article: https://inheritedcancer.net/3nls2012/
