"Genetic Screening for Lynch Syndrome"
Grant :
Genetics of Gastrointestinal Cancers
As part of its mission, the Consortium on the Genetics of Gastrointestinal Cancers at Case Western Reserve University targeted the early detection of Lynch Syndrome as a mechanism to reduce colon cancer death rates. Lynch Syndrome is a high risk hereditary predisposition to colon cancer. Healthy people with Lynch Syndrome have an 85% lifetime risk for colon cancer. In addition, females with Lynch Syndrome have a 60% lifetime risk for uterine cancer. About 2.2% of all colorectal cancer patients have Lynch Syndrome which translates into a 50% risk of the Syndrome for parents, siblings and children. This risk also extends to aunts, uncles and cousins. Early detection andscreening greatly increase survivability, yet current screening technology for Lynch Syndrome is not practical to implement.
With funding from the BRTTprogram, the Consortium created three infrastructure resources: a biorepository to support gene discovery, diagnostic assay development and identification of molecular targets for therapy; a mouse clinic to support imaging of GI cancers in vivo to monitor disease progression and treatment response; and a mutant mouse model for gene discovery. These resources were used to develop a practical screening test for Lynch Syndrome that enabled large scale screening.
With these capabilities, the Consortium conducted screening of 1,600 Ohioans and identified 34 patients that have Lynch Syndrome. After testing 158 genetic relatives and offspring of the 34 patients, the Consortium identified 69 healthy people with Lynch Syndrome. Having identified these individuals, the application of aggressive monitoring (annual colonoscopies) can reduce the risk of colorectal cancer by as much as 85% and by 64% for endometrial cancer.
