Chemoprevention and preventive surgeries for reducing cancer risk may also be options. This is accomplished by reviewing the personal medical and family history, including review of medical records. A physical exam may reveal additional findings that can contribute to the diagnosis. In conjunction with the evaluation, education and genetic counseling are provided to discuss the benefits and limitations of genetic testing, as well as the options available for early detection and cancer risk reduction. The testing strategy for inherited forms of endometrial cancer first involves testing of archived tumor tissue from an affected family member or it may begin by looking for mutations in a blood sample.
Mutation testing is most informative when first performed in a family member with cancer.
If a mutation can be identified in a family member with cancer, this information may help with their disease management, and other family members can be tested for that specific mutation. Those family members who do not have the mutation have not inherited a predisposition to cancer and should follow the general population recommendations for prevention. Those who do have the mutation have an increased risk for specific cancers and may benefit from enhanced prevention strategies. If a cancer susceptibility gene mutation is not identified in an affected family member, it is possible that a different gene is responsible for the predisposition to cancer in the family and options for cancer prevention would be based on the genetic risk assessment. It is not always possible to test an affected family member or an archived tumor sample first.