What are BRCA mutations?


Angelina Jolie has put personalized medicine in the spotlight. Her mother died at age 56 following a 10 year battle with cancer. Jolie recently published a powerful New York Times op ed piece revealing her personal journey after testing positive for a BRCA mutation and her subsequent decision to have risk-reducing removal of her breasts and ovaries. In today’s blog, we turn to the basics of BRCA mutations. What are they, and what are the risks they pose?

BRCA stands for BReast CAncer susceptibility gene. We have BRCA1 and BRCA2, initially discovered by Dr. Claire King at the University of Washington, Seattle. You and I have BRCA genes; in fact we all do. They are tumor suppressor genes that help to keep your cells’ genetic material stable and to prevent cells from growing uncontrollably.

Among women, BRCA mutations (changes) have been associated with a marked increase in the risk of breast and ovarian cancer, often at an early age. On average, the risk of breast cancer increases from 12% (for the average woman in the USA) to about 60% or more among those with a BRCA mutation. The lifetime risk for ovarian cancer increases too, from about 1.4% in the general population to as much as 40%.

Unfortunately, there is more. BRCA1 mutations also increase the risk of cervix, uterus, colon, and pancreas cancer. And BRCA2 mutations also increase the risk of stomach, gallbladder, pancreas, and bile duct tumors as well as melanoma. Among men, BRCA mutations can increase the risk of male breast cancer, with BRCA1 mutations also associated with a higher risk of testicular cancer, and BRCA2 mutations increasing the risk for prostate cancer.

Genetic counseling can be remarkably informative. We will discuss who should consider BRCA testing in a future blog. Thank you. I’m Dr. Michael Hunter.

The small print: Anything stated here is for general use only, and should not be construed as medical advice for an individual. Please check with your health care provider with any questions or concerns.

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Harvard AB Yale MD UPenn Radiation Oncology Radiation Oncologist, Seattle area

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