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Study Seeks to Increase BRCA Cancer Gene Testing

breast cell, cancer, BRCA, gene mutation, ovarian cancer
A breast cancer cell, at a very high magnification, photographed by a scanning electron microscope, producing a 3-dimensional image. Source: National Cancer Institute. Bruce Wetzel and Harry Schaefer, photographers.

Testing for cancer-causing gene mutations is fraught with questions and uncertainty. Who should be tested? How should genetic counseling be handled? And who should interpret the results?

The process may become easier with the launch of the BRCA Founder Outreach Study (BFOR). The new initiative will offer BRCA genetic testing at no cost to 4,000 eligible men and women—ages 25 and older—of Ashkenazi (Eastern European) Jewish descent.


The BRCA1 and BRCA2 gene mutations, which are inherited, are responsible for about 5-10% of breast cancers and about 15% of ovarian cancers.


The study is in its pilot phase with 1,000 participants each from the Los Angeles, New York, Philadelphia, and Boston metropolitan areas. The pilot study was launched in November 2017, with a larger national study to begin in 2018.

The BRCA1 and BRCA2 gene mutations, which are inherited, are responsible for about 5-10% of breast cancers and about 15% of ovarian cancers, according to the National Cancer Institute.

Testing positive for the mutations significantly raises the risk of developing those and other types of cancer, including prostate cancer. Approximately 90% of BRCA carriers do not know they have the mutation.

The study will assess the effectiveness of a new model for genetic testing, which incorporates a state-of-the-art online platform for genetic counseling, with participants' primary care providers helping to interpret the results and discuss next steps.

"BFOR might help us prevent hundreds of cancers by providing genetic information to a wide range of individuals and their families and allowing their doctors to make important healthcare decisions to reduce risks," says Dr. Beth Y. Karlan, a principal investigator for the project and director of the Women's Cancer Program in the Cedars-Sinai Samuel Oschin Comprehensive Cancer Institute. Dr. Karlan, who is also a professor of Obstetrics and Gynecology, has been at the forefront of developing new treatments and identifying genetic changes that cause cancer.


The investigators chose participants of Ashkenazi descent because they are 10 times more likely to carry a BRCA mutation than the rest of the population.


"BRCA tests are cost-effective and provide a conclusive 'yes or no' result," she adds. "And by involving the patient's own physician, BFOR will help us understand how healthcare can integrate genetic testing to personalize medical care for everyone."

Although BRCA genetic testing has been available for more than 20 years and is known to save lives, the large majority of people at risk have not been screened. Testing is typically limited to those with a family history of BRCA-associated cancers.



The investigators chose participants of Ashkenazi descent because they are 10 times more likely to carry a BRCA mutation than the rest of the population. The investigators hope the results of the study will pave the way for a new model of genetic testing in the general population.

Those interested in participating can sign up to be notified when the next phase of the study opens. To join the study, potential participants will need to confirm their eligibility and register through an online platform. They will complete an online education module, provide their informed consent, and supply a DNA sample. Test results and follow-up genetic counseling will be provided by the participant's primary care physician or a BFOR cancer genetics specialist.

BFOR will assist physicians by providing educational tools and ongoing support from leading specialists regarding BRCA test interpretation and options for medical management of risk for breast, ovarian, prostate, and other cancers.

To learn more about BFOR or sign up to be notified when the next phase opens, visit BFORStudy.com.