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Genetic testing for breast cancer: Worth it?

April 9, 2019

UPDATED:  The American Society of Breast Surgeons has published an updated Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. The recommendations state that "Genetic testing should be made available to all patients with a personal history of breast cancer." This recommendation includes newly diagnosed patients or those with a personal history. The testing may impact treatment recommendations and testing for family members and specific risk reduction strategies. Talk to your physician about how this may affect you.

 

BRCA can be a scary acronym for many women, and for good reason. But knowledge about the cancer genes can empower, enable people to take action, and make informed decisions. BRCA testing saves lives, and free genetic tests are now available in four cities across the U.S.

 

 

What does BRCA mean?

 

The BRCA genes are found in all of us and in every cell of our body, says Dr. Beth Karlin, Director of the Cedars-Sinai Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute. BRCA stands for BReast CAncer susceptibility gene. The BRCA genes are not harmful and have an important protective function in stabilizing genetic material in cells. BRCA genes are known as tumor suppressor proteins because they repair damage to DNA in cells and can prevent cancer.

 

But a mutation or an alteration on one or both of the BRCA genes means DNA damage may not be repaired. In this environment, cells are more likely to divide and change rapidly. These kinds of changes may lead to cancer. Although genetic mutations are rare, the BRCA mutations increase risk for cancer in both men and women, and disproportionately strike women and men of Ashkenazi Jewish descent. 

 

Note: For a list of valuable resources on BRCA which I've put together, please see the bottom of the page.

 

What are the BRCA genes?

 

BRCA genes are named BRCA1 and BRCA2. BRCA carriers are at higher risk for:

 

  • Breast cancer in both men and women

  • Ovarian cancer

  • Prostate cancer

  • Pancreatic cancer

  • Melanoma (skin) cancer

 

Mutations in breast cancer genes mean women are at increased risk, and at a younger age (at or before age 50 for breast cancer, and age 60 for triple negative breast cancer) for several types of breast cancer:

 

  • BRCA1 mutations often cause triple negative breast cancers: Estrogen receptor-negative (ER-negative), Progesterone receptor-negative (PR-negative), and HER2-negative. 

  • BRCA2 carriers tend to have breast cancers that are estrogen receptor-positive (ER-positive).

  • A BRCA1/2 mutation can increase the risk of a second primary breast cancer (a second breast tumor not related to the first one), and usually not in the primary affected breast.

 

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Who should be tested?

 

Only 5-10 percent of all cancers are hereditary and most breast cancers are not due to mutations in the genes. On the other hand, BRCA carriers have a 75%-85% risk of developing breast cancer; and a 50% greater risk of ovarian cancer. Men have a 25% increased risk of prostate cancer. Compare this to a 12% risk of breast cancer in the general population; a 1.6% risk of ovarian; and a 14% risk of prostate cancer. Additionally, men have an increased risk of breast cancer.

 

The statistics for BRCA in Ashkenazi men and women of Jewish descent are startling, according to Sharsheret, a Jewish Breast Cancer Organization. One in 40 Ashkenazim carries a BRCA1 or BRCA2 gene mutation, and 90% don't know they have it. Most Jews, or 95 percent, are Ashkenazi.

 

Everyone who carries a BRCA gene mutation has a 50% chance of passing it to his or her children. Half of all mutations are in men. Not everyone who has the mutation will get cancer, yet he or she can still pass it on. "We have to think multi-generational," says Dr. Philomena McAndrew, oncologist and founding member of Tower Hematology Oncology Medical Group, affiliated with Cedars-Sinai.

 

Knowing a family history can help, but does not mean you are negative, says Dr. Susan Domcheck, Executive Director of the Basser Center for BRCA, and Professor of Oncology at the University of Pennsylvania. The best way to find out your risk and whether you are a carrier is through genetic testing.

 

Testing allows the opportunity to make informed choices about high-risk screening, risk-reducing surgery, and life-saving medical treatments. New preventative treatments are bring developed, including a novel preventative vaccine, shown to elicit an immune response in a Phase I clinical trial.

 

Free genetic testing

 

The BRCA Founder OutReach (BFOR) Study, provides no-cost genetic testing for the three common BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. These three specific mutations in the BRCA1 and BRCA2 genes are exceptionally common among individuals of Ashkenazi Jewish ancestry.  In general, testing for these mutations is offered to individuals, especially women, who have a personal or family history of early onset breast or ovarian cancers. However, recent data confirm that this method misses about 50% of individuals who carry BRCA mutations, especially those with small families and few female relatives.

 

Home testing is now approved by the FDA for BRCA genes. But home tests, which are saliva-based (unlike blood tests used for medical testing), do not identify other mutations that may predispose you to a variety of cancers. Also, it's most effective and strongly recommended to meet with a physician and a genetics counselor after testing.

 

According to Daniella Kamara, MS, LCGC, genetic counselor at the The Gilda Radner Hereditary Cancer Program, of Cedars-Sinai Women's Cancer Program, those with the BRCA1 or BRCA2 gene mutations are at the highest risk for breast and ovarian cancers. The BFOR study aims to pilot an approach to expand access to testing in the US for these common mutations. The study will begin by offering BRCA testing to 1,000 self-identified Ashkenazi Jewish women and men, 25 years of age or older, in four different US metropolitan areas.

 

To be eligible, participants in Los Angeles, New York, Boston, and Philadelphia, must:

 

  • Be age 25 or older

  • Have at least 1 Ashkenazi Jewish grandparent

  • Have not had prior BRCA testing

 

You can find more information and sign up online here: www.bforstudy.com.

 

 

Resources

 

For information on BRCA-related cancers and what you can do, here are some valuable resources I've listed:

 

 

Subscribe! Get continuous updates on nutrition for cancer survivors. Click the button at top of page, and you'll be directed to the subscribe link.

 

 

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West Los Angeles

California, USA

nutritionnomnom@gmail.com

Tamar Rothenberg

Registered Dietitian Nutritionist

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Tel: 310 277 3579

These statements have not been evaluated by the Food and Drug Administration. This product is not intended to diagnose, treat, cure, or prevent any disease. There is no guarantee of specific results. Results can vary. All material provided on this website is provided for informational or educational purposes only. Consult a physician regarding the applicability of any opinions or recommendations regarding your symptoms or medical condition. | Copyright © 2019 by Tamar Rothenberg, Nutrition Nom Nom, All Rights Reserved.