BRCA: Best Advice for Patients Who Worry

Sandra Adamson Fryhofer, MD


May 28, 2013

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In This Article

Hello. I'm Dr. Sandra Fryhofer. Welcome to Medicine Matters. The topic: BRCA genes, cancer, and key facts from the National Cancer Institute.[1] Here's why it matters. Angelina Jolie, the most beautiful woman in the world, has put personalized medicine in the spotlight. Her mother died at age 56 after a 10-year battle with cancer. Jolie's powerful New York Times op-ed[2] revealed her own personal journey after testing positive for a BRCA mutation and her subsequent decision to have a prophylactic mastectomy.

BRCA Mutations and the Risks They Pose

BRCA stands for BReast CAncer susceptibility gene. There's BRCA1 and BRCA2. All of us -- both men and women -- have them. These are tumor-suppressor genes. They help keep the cell's genetic material stable and prevent uncontrolled cell growth. In women, harmful BRCA gene mutations have been linked to both breast and ovarian cancer at an early age. Breast cancer risk is increased fivefold in affected women, from the 12% lifetime risk for women in the general population to 60% in those with this mutated gene .Lifetime risk for ovarian cancer is also increased, from 1.4% seen in the general population to between 15% and as much as 40%.

But that's not all. BRCA1 mutations can also increase a woman's risk for cervical, uterine, pancreatic, and colon cancer. BRCA2 mutations increase her risk for pancreatic, stomach, gallbladder, and bile duct cancer, and they also increase the risk for melanoma.

Mutations of either gene in men -- but especially BRCA2 -- can also be harmful, increasing the risk for breast and pancreatic cancer. Mutations of BRCA1 are also linked to testicular cancer, and for BRCA2 there's an increased risk for prostate cancer.


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