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Sunday, November 4, 2012

Genetic testing for ovarian cancer

About 10-15% of epithelial ovarian cancer are due to BRCA genes mutations.   Some of my patients with ovarian cancer are concerned that their daughters and sisters may also have an increased risks to develop ovarian cancer.   They are correct that first degree relatives (mother, sister, child) of an ovarian cancer patient would increase their baseline life time risk from 1.4% to around 2%.  If they have BRCA genes mutations, their life time risk jumps to about 50-85% for breast cancers and15 to 40 percent chance of developing ovarian cancer.

BRCA genes mutations are found more commonly in patients with a personal history of breast cancer and/or a family history of breast and ovarian cancer, especially if associated with young age of onset, multiple tumors, and involvement of male family members affected with breast cancer.  Ashkenazi Jews ethnicity is also a known risk factor.  Thus, if you have these histories, do talk to your physician about getting genetic counseling.  The genetic counselor will obtain more detail history and use a program to estimate your risk for BRCA genes mutations.  Genetic testing is usually recommended if your risk is estimated to be around 10% or higher.

Patients may have concerns of being discriminated after a genetic testing.  Fortunately, the Federal Genetic Information Nondiscrimination Act (GINA) of 2008 prohibits health insurers and employers from asking or using genetic test information in decisions about employment or insurance eligibility/coverage.
 
References:
- Pharoah PD, et al. Int J Cancer 1997; 71:800
- Hudson KL, et al. Keeping pace with the times--the Genetic Information Nondiscrimination Act of 2008.N Engl J Med. 2008;358(25):2661.
-Colditz G, et al. JAMA 1993; 270:338.

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