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Muir-Torre Found in Many Lynch Syndrome Families

Research suggests that seldom-reported Muir-Torre syndrome is variant of Lynch syndrome

WEDNESDAY, Feb. 13 (HealthDay News) -- Research to examine the frequency of skin tumors related to Muir-Torre syndrome among families with Lynch syndrome suggests that Muir-Torre syndrome is a variant of Lynch syndrome, according to a report published in the Feb. 20 issue of the Journal of the National Cancer Institute.

Christopher D. South, M.D., of Ohio State University-Columbus, and colleagues analyzed data from patients with colorectal or endometrial adenocarcinoma who were confirmed through molecular testing for the presence of a germline mutation in an MMR gene to have Lynch syndrome. The subjects were asked about personal and family history of sebaceous gland tumors and keratoacanthomas, and at-risk family members were referred for genetic counseling and testing for Lynch syndrome when appropriate.

Muir-Torre was found in 9.2 percent of 152 individuals with Lynch syndrome, and in 28 percent of 50 Lynch syndrome families. Seventy-five percent of families with the c.942+3A>T MSH2 gene mutation had Muir-Torre syndrome compared to 25 percent of families who carried other mutations in the MSH2 gene.

"We propose that Muir-Torre syndrome-associated skin lesions be included as a component tumor of the Lynch syndrome and screened for accordingly," the authors write. "Given the high frequency of Muir-Torre syndrome-associated skin lesions among Lynch syndrome patients, an annual dermatologic examination is a reasonable strategy for the detection of these lesions and would provide an opportunity to discuss risk factor modification, such as minimizing sun exposure."

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