By Kari Kaplan, MS, LCGC

October 4, 2018 Insights

Quest Diagnostics, Inc. is the exclusive genetic-testing partner for the BRCA Founder Outreach Study (BFOR), which offers BRCA testing to 4,000 Ashkenazi-Jewish men and women in four major metropolitan U.S. cities: New York, Los Angeles, Philadelphia, and Boston.  One of the BFOR Study’s main goals is to explore new ways our healthcare system can use genetic testing to improve and personalize medical care in the future. The BFOR study collaboration is led by investigators from Memorial Sloan Kettering Cancer Center, Dana-Farber Cancer Institute, Cedars-Sinai, and the University of Pennsylvania. Participants who test positive for one of the known disease-causing mutations/pathogenic variants, or who have a family history of BRCA-related cancers, receive genetic counseling.

BFORBRCA mutation carriers are at significantly increased risk of developing cancer of the breast, fallopian tubes, and ovaries.  In the general population, a woman’s risk to develop breast cancer is approximately 12%, while women with BRCA1 or BRCA2 mutations may have as high as a 65% risk of breast cancer over their lifetime. For ovarian/fallopian tube cancer the general population risk is approximately 1%, however, women with BRCA mutations may face as high as a 39% lifetime risk of ovarian/fallopian tube cancer. Additionally, BRCA carriers may have an increased risk for melanoma and pancreatic cancer. Men who carry BRCA mutations need to be aware of increased cancer risks as well, including breast, prostate, melanoma, and pancreatic cancer.

For BRCA mutation carriers, these risks can be scary, but the positive news is that with knowledge comes power. They can take steps to be proactive to minimize their chances of developing cancer in the first place.  Some of these individuals refer to themselves as “previvors”, people who are at increased risk to develop cancer due to their genetic predisposition, but have not yet developed cancer.

BRCA mutation carriers have options.  Preventative surgery is one option, and can include prophylactic bilateral mastectomy (removal of the breasts), which reduces the risk of breast cancer in BRCA mutation carriers by 90%.1-3 Prophylactic bilateral salpingo-oophorectomy (removal of the fallopian tubes and ovaries) greatly reduces the risk of fallopian tube/ovarian cancer and has the added benefit of reducing breast cancer risk as well.1,4-8  Women of child-bearing age may have the option of delaying the removal of their fallopian tubes and ovaries until after they have had children. These management decisions should be made in conjunction with their doctor(s) and genetic counselor. At-risk individuals may also consider increased surveillance for breast cancer with the use of mammograms and breast MRIs. Ovarian cancer screening is an option but is limited. The test may fail to detect ovarian cancer when it is present (false-negative) or increase the suspicion of cancer when it’s not present (false-positive).  BRCA mutation carriers may also be advised to undergo additional screening for melanoma, and in certain cases, pancreatic cancer, and prostate cancer screening (for men).  Family members of BRCA mutation carriers, who are at an increased risk to carry these cancer-causing mutations, have options for themselves.  They can choose whether or not they want to undergo genetic testing to determine their BRCA status, and they can also make their own healthcare decisions with regard to cancer screening and risk-reduction.

For those individuals participating in the BFOR study, they have embarked down a new path of genetic discovery for themselves and for their family. Empowered with their new-found knowledge, many of these women and men are able to navigate their health and wellness choices, as well as be proactive in lowering their chances of a possible, future cancer diagnosis.

Kari Kaplan, MS, LCGC is a Quest Diagnostics Genomic Science Liaison, Advanced Diagnostics.



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