Who Needs Genetic Testing for GYN Cancer?


Genetic testing for ovarian or endometrial cancer isn't recommended for everyone. Find out here which patients should be referred for testing.

Table. Risk of cancer if gene mutation is present.

As genetic testing for breast cancer has become more common, women are increasingly interested in genetic testing for other types of gynecologic cancers. As the primary providers of women's health care, OB/GYNs are likely fielding many questions about these tests. Guidance on how to answer some of these questions comes from the Society of Gynecologic Oncology (SGO), which recently released a position statement on who would benefit most from genetic testing based on next generation sequencing technology. 

As to who should be tested, the SGO has made the following recommendations.The use of cancer gene panels decreases cost and improves efficiency of cancer genetic testing through reductions in time involved, number of patient visits required, and number of tests sent, the SGO reports. The drawback, however, is that the results are complex and requires the involvement of a cancer genetics professional to help patients and sometimes physicians interpret the results.This technology, using inexpensive, rapid DNA sequencing, can assess a woman's risk for certain gynecologic cancers by identifying whether specific inherited gene mutations are present (Table). These cancer gene panels, which have been available since late 2011, vary in size, with the smallest panel having just 2 genes (eg, BRCA1 and BRCA2) and the largest panels including more than 50 genes.

Ovarian Cancer

- Women with a diagnosis of epithelial ovarian, fallopian tube, and peritoneal cancers should receive genetic counseling and be offered genetic testing.

- Women who are unaffected by gynecologic cancer but have a close family member (ie, mother, sister, or daughter) with a diagnosis of ovarian, fallopian tube, or primary peritoneal cancer or who have a family history of ovarian and breast cancer in several relatives should also receive genetic counseling.

Endometrial Cancer

- All women with a diagnosis of endometrial cancer should be assessed for Lynch syndrome. This assessment would include a detailed family history of cancer and perhaps specific tests on tissue samples from the cancer lesion.

- Women with a family history of endometrial and colon cancer should receive genetic counseling, regardless of whether they have a cancer diagnosis.

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