Clinical Genetic Services

The Hereditary Cancer Core has assisted with the transition of basic science laboratory discoveries to the medical management and genetic counseling of families with hereditary cancer. One example is the development of clinical management strategies for women with MSH6 gene mutations. These strategies were derived initially from discoveries at our institution and subsequently validated by other investigators. See the Hereditary Cancer Core supported work:

Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Am J Hum Genet. 2004, 74(6):1262-9