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ICARE Social Media Post August 2020

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

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

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

ICARE Newsletter Summer 2020

Identifying Individuals At-Risk for Inherited Cancer

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

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

ICARE Newsletter Summer 2020

Polygenic Risk Scores and Colon Cancer

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

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

ICARE Social Media Post August 2020

Inherited Prostate Cancer Risk

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

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

ICARE Social Media Post July 2020

Cancer Risks in Men with BRCA1 and BRCA2 Pathogenic Variants

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

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

ICARE Social Media Post July 2020

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

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

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

ICARE Social Media Post July 2020

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

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

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

ICARE Featured Video May 2020

Variant Classification

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

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

ICARE Social Media Post May 2020

CDH1: Gastric and Breast Cancer Risks

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

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

ICARE Social Media Post April 2020

PALB2: Cancer Risks and Risk Management

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

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

ICARE Social Media Post April 2020

BRCA2: Cancer Risks and Risk Management

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

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

ICARE Social Media Post April 2020

BRCA1: Cancer Risks and Risk Management

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

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

ICARE Social Media Post April 2020

EPCAM: Cancer Risks and Risk Management

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

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

ICARE Social Media Post March 2020

PMS2: Cancer Risks and Risk Management

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

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

ICARE Social Media Post March 2020

MSH6: Cancer Risks and Risk Management

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

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

ICARE Social Media Post March 2020

Polygenic Risk Score and Colon Cancer Risk

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

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

ICARE Social Media Post March 2020

MSH2: Cancer Risks and Risk Management

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

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

ICARE Social Media Post March 2020

Colon Cancer and Polyp Risks

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

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

ICARE Social Media Post March 2020

MLH1: Cancer Risks and Risk Management

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

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

ICARE Social Media Post February 2020

Genetic Testing in Tumors versus Genetic Testing for Cancer Risk

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

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

ICARE Newsletter Winter 2020

Community Spotlight

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

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

ICARE Newsletter Winter 2020

New Study Based on ICARE Participants with ATM & CHEK2 Mutations

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

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

ICARE Newsletter Winter 2020

PALB2 Mutations & Cancer Risk

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

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

ICARE Newsletter Winter 2020

Ask the Expert

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

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

ICARE Newsletter Winter 2020

Lynch Syndrome Cancer Risks Across Genes

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

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

ICARE Social Media Post February 2020

PMS2 and MSH6 Colorectal Cancer Risks

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

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

ICARE Social Media Post February 2020

Ovarian Cancer Risks in BRCA1/2

The risk of ovarian cancer is raised in women with BRCA1/2 mutations. Recent findings suggest that higher body mass index (BMI) may further raise the risk of ovarian cancer in premenopausal BRCA1/2 carriers. Note that all women with BRCA1/2 mutations are at high risk for ovarian cancer, and should follow current National Comprehensive Cancer Network …

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Permanent link to this article: https://inheritedcancer.net/post21820/

ICARE Social Media Post February 2020

Lynch Syndrome Cancer Risks Across Genes

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

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

ICARE Social Media Post January 2020

Polygenic Risk Scores

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

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

ICARE Featured Video January 2020

PALB2

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

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

ICARE Social Media Post December 2019

PALB2 Mutations and Cancer Risk

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

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

ICARE Featured Video November 2019

Polygenic Risk Scores

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

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

ICARE Social Media Post November 2019

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

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

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

ICARE Social Media Post October 2019

Lifestyle Factors Associated with Familial and Inherited Breast Cancer Risks

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

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Permanent link to this article: https://inheritedcancer.net/post102919/

ICARE Social Media Post October 2019

Inherited Breast Cancer Among Latina Women

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

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

ICARE Newsletter Summer 2019

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

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

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Permanent link to this article: https://inheritedcancer.net/1nls2019/

ICARE Newsletter Summer 2019

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

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

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Permanent link to this article: https://inheritedcancer.net/6nls2019/

ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: CHEK2

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

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Permanent link to this article: https://inheritedcancer.net/7nls2019/

ICARE Newsletter Summer 2019

New Information About Cancer Risks for Inherited Cancer Genes: DICER1

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

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Permanent link to this article: https://inheritedcancer.net/8nls2019/

ICARE Newsletter Summer 2019

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

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

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Permanent link to this article: https://inheritedcancer.net/11nls2019/

ICARE Newsletter Summer 2019

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

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

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Permanent link to this article: https://inheritedcancer.net/9nls2019/

ICARE Newsletter Winter 2019

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

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

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Permanent link to this article: https://inheritedcancer.net/10nlw2019/

ICARE Newsletter Winter 2019

Expansion of Lynch Syndrome Tumor Spectrum Which May Have Treatment Implications

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

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Permanent link to this article: https://inheritedcancer.net/6nlw2019/

ICARE Newsletter Summer 2018

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

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

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Permanent link to this article: https://inheritedcancer.net/2nls2018/

ICARE Newsletter Summer 2018

Differences in Breast Cancer Risks Among Women with Lynch Syndrome

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

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Permanent link to this article: https://inheritedcancer.net/3nls2018/

ICARE Newsletter Summer 2018

Refining Cancer Risks Among Individuals with Lynch Syndrome

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

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Permanent link to this article: https://inheritedcancer.net/5nls2018/

ICARE Newsletter Winter 2018

Advances in the Understanding of Inherited Prostate Cancer

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

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Permanent link to this article: https://inheritedcancer.net/10nlw2018/

ICARE Newsletter Winter 2018

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

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

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Permanent link to this article: https://inheritedcancer.net/3nlw2018/

ICARE Newsletter Winter 2018

Refining Risks and Outcomes of Breast Cancer in BRCA Carriers

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

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Permanent link to this article: https://inheritedcancer.net/4nlw2018/

ICARE Newsletter Winter 2018

Ask the Expert

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

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

ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Risks Among BRCA Carriers Followed Over Time

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

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

ICARE Newsletter Summer 2017

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

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

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Permanent link to this article: https://inheritedcancer.net/3nls2017/

ICARE Newsletter Summer 2017

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

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

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

ICARE Newsletter Winter 2017

Characterizing Breast Cancers That Develop Among Women with a CHEK2 Mutation

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

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

ICARE Newsletter Winter 2017

A Newly Identified Inherited Colon Cancer Gene: FAN1

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

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

ICARE Newsletter Winter 2017

Ask the Expert

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

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

ICARE Newsletter Summer 2016

What Are the Endometrial Cancer Risks Among BRCA Carriers?

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

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

ICARE Newsletter Summer 2016

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

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

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Permanent link to this article: https://inheritedcancer.net/6nls2016/

ICARE Newsletter Summer 2016

Risk of Second Cancers Among Those with PTEN Mutations

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

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Permanent link to this article: https://inheritedcancer.net/8nls2016/

ICARE Newsletter Summer 2016

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

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

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Permanent link to this article: https://inheritedcancer.net/3nls2016/

ICARE Newsletter Winter 2016

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

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

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Permanent link to this article: https://inheritedcancer.net/5nlw2016/

ICARE Newsletter Winter 2016

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

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

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Permanent link to this article: https://inheritedcancer.net/3nlw2016/

ICARE Newsletter Winter 2016

Ask the Expert

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

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Permanent link to this article: https://inheritedcancer.net/6nlw2016/

ICARE Newsletter Winter 2016

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

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

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Permanent link to this article: https://inheritedcancer.net/2nlw2016/

ICARE Newsletter Summer 2015

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

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

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Permanent link to this article: https://inheritedcancer.net/4nls2015/

ICARE Newsletter Summer 2015

Breast Cancer Risks and Outcomes Among Women with a PALB2 Mutation

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

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Permanent link to this article: https://inheritedcancer.net/3nls2015/

ICARE Newsletter Winter 2015

PALB2: A Third Important Gene for Inherited Breast Cancer

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

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

ICARE Newsletter Winter 2015

Ask the Expert

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

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Permanent link to this article: https://inheritedcancer.net/3nlw2015/

ICARE Newsletter Summer 2014

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

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

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Permanent link to this article: https://inheritedcancer.net/2nls2014/

ICARE Newsletter Summer 2014

What Are Factors That Modify Cancer Risk in BRCA Carriers?

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

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Permanent link to this article: https://inheritedcancer.net/3nls2014/

ICARE Newsletter Summer 2014

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

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

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

ICARE Newsletter Summer 2014

Ask the Expert

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

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

ICARE Newsletter Summer 2014

New Study to Suggest Benefits of Oophorectomy in BRCA Mutation Carriers

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

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Permanent link to this article: https://inheritedcancer.net/4nls2014/

ICARE Newsletter Winter 2014

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

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

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

ICARE Newsletter Winter 2014

Ask the Expert

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

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Permanent link to this article: https://inheritedcancer.net/4nlw2014/

ICARE Newsletter Winter 2014

Contralateral Mastectomy May Improve Survival in BRCA Mutation Carriers

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

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

ICARE Newsletter Summer 2013

Oophorectomy Following Menopause

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

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

ICARE Newsletter Summer 2013

Ask the Expert

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

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Permanent link to this article: https://inheritedcancer.net/6nls2013/

ICARE Newsletter Winter 2013

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

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

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

ICARE Newsletter Winter 2013

Is Lynch Syndrome Associated with Breast Cancer?

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

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

ICARE Newsletter Summer 2012

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

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

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Permanent link to this article: https://inheritedcancer.net/4nls2012/

ICARE Newsletter Summer 2012

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

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

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Permanent link to this article: https://inheritedcancer.net/3nls2012/

ICARE Newsletter Summer 2012

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

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

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

ICARE Newsletter Summer 2011

Ask the Expert

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

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Permanent link to this article: https://inheritedcancer.net/1nls2011/