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Genetic Study Targeting the Ashkenazic Jewish Population Aims to Prevent Cancer

Yehudis Litvak

The BRCA Founder Outreach Study (BFOR study), currently conducted in Los Angeles, as well as in Boston, Philadelphia, and New York, seeks to prevent cancer by providing free and easily accessible genetic testing and counseling to individuals of Ashkenazi Jewish ancestry. Such individuals are at increased risk for carrying mutations in the BRCA1 and BRCA2 genes. The local study is directed by Dr. Beth Karlan, a gynecologic oncologist and researcher at Cedars-Sinai Medical Center.

BRCA1 and BRCA2 are genes, present in all human DNA. “BRCA genes help cells grow and repair errors in the DNA,” explains the study’s website. “Mutations in BRCA genes are spelling errors in the genetic code. They can cause the gene to not function properly. This can increase the risk for breast, ovarian, prostate, and possibly other cancers.”

Three specific mutations, known as founder mutations, occur at a higher frequency in the Ashkenazi Jewish population and have been correlated with cancer. These mutations are ten times more likely to be present in Ashkenazic Jews than in the general population, explains Daniella Kamara, M.S., LCGC, a genetic counselor at Cedars-Sinai Medical Center who is working with the BFOR study. “There is a lot of potential to prevent cancer in that population,” she says.

According to the BFOR study website, the risk of breast cancer for women with BRCA mutations is as high as 80%, with 40% risk of ovarian cancer. Men with BRCA mutations are at increased risk for prostate and male breast cancer. However, up to 90% of people with BRCA mutations are not aware that they have them. Currently, genetic testing is only offered to those with prior family history, but 50% of people with BRCA mutations don’t have any family history at all, explains Ms. Kamara. “We are missing the opportunity to prevent cancer and only becoming aware of the BRCA mutations when cancer is diagnosed,” she says.

The purpose of the BFOR study is to investigate new ways of providing genetic testing to the general population, thus allowing people access to information that can help reduce their cancer risks. The genetic testing offered through this study is not the same as the widely available carrier screening, which tests for diseases such as Tay-Sachs, Gaucher’s disease, along with others, that have the potential to affect a future child.

The platform for the study is especially user friendly, with an online educational module and forms to determine eligibility and affirm consent. Once the participant completes the online component, they will receive a referral to a local Quest Diagnostics lab, where they can come in for a blood test, free of charge, at their own convenience. They can choose to receive the test results from either their own doctor or a genetic counselor from the study team. Genetic counseling will be provided for anyone who tests positive for the BRCA mutation.

Both men and women 25 years of age or older, with at least one Ashkenazic Jewish grandparent, are eligible for the study. The study will continue for about a year, until 4000 people total are tested – 1000 in each of the four locations.

Different options are offered to those who test positive for the BRCA mutations, such as increased screening, as well as preventative surgery. “These are truly preventable cancers,” says Ms. Kamara, emphasizing the importance of testing and prevention for men, who are just as frequently affected as women.

More information about the study is available on the website, https://www.bforstudy.com