Uterine Cancer and Genetics


Genetic testing may be performed in two scenarios. Genetic testing may be offered to women who have a strong family history of uterine cancer. Also, it can be performed in women diagnosed with uterine cancer to help guide treatment and to determine whether family members may be at risk.

  • Genetic counseling is generally recommended before testing for hereditary cancer syndrome. Counseling is also generally offered after the test to provide support and information, especially if a positive result is found. This counseling should be performed by a trained genetic counselor or other healthcare professional with experience in cancer genetics.
  • Genetic testing looks for specific inherited changes (variants) in a person’s genes. These variants can have good, bad, or no effect on disease risk; in some cases, the effect is uncertain or unknown. Certain harmful variants in specific genes are known to be associated with an increased risk for developing cancer. These inherited variants are thought to be a factor in about 5% to 10% of all cancers.

Lynch Syndrome

  • Lynch syndrome is a hereditary cancer syndrome previously known as hereditary non-polyposis colorectal cancer (HNPCC).
  • People with Lynch syndrome are more likely to get colorectal cancer and other cancers before age 50, including endometrial cancer, breast cancer, and ovarian cancer.
  • Lynch syndrome is among the most common hereditary cancer syndromes, and responsible for about 3% of colorectal or endometrial cancers.
  • Individuals with Lynch syndrome have up to 50% and 60% lifetime risks for colorectal and endometrial cancer, respectively.
  • Women diagnosed with Lynch syndrome can undergo gynecologic surveillance to allow early detection of endometrial cancer. Women who have completed childbearing can undergo prophylactic surgery to remove the uterus (hysterectomy) as well as ovaries and fallopian tubes (salpingo-oophorectomy).
  • Women with Lynch syndrome should also undergo surveillance for other Lynch syndrome-associated cancers, including colorectal cancer.

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