Risks for colon cancer in men and women as well as prostate cancer in men are also increased. Not all individuals with an MSH2 or MLH1 mutation will develop cancer but their risk is significantly increased. This is accomplished by reviewing the personal medical history and the 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.
Mutation testing is most informative when first done in a family member with cancer.
If a mutation is identified, this information may help with their disease management. Additionally, other at-risk 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 gene mutation is not identified, it is possible that a different cancer susceptibility gene is responsible for the cancer in the family.