Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay

PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colore ctal cancer first described in 1977, incorporating knowledge of how the hML H1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with gene tic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted manag ement programs. RESULTS: We counseled 19 members of this kindred, 13 of who m were positive for the hMLH1 germline mutation. Specific recommendations f or surveillance and management were provided. We were able to describe foll ow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable s ibship within this kindred was comprised of eight siblings, six of whom und erwent resections for colorectal carcinoma between 1963 and 1971. Colon car cinomas before 1977 in this sibship were treated with classic hemicolectomi es. Of those who had hemicolectomies for their first primary colorectal can cers, two had a second colon cancer primary, and two had a third colon canc er primary. CONCLUSIONS: Attention given to this extended family with hered itary nonpolyposis colorectal cancer has had a positive impact on the physi cian community in Uruguay, leading to the identification of additional fami lies with hereditary nonpolyposis colorectal cancer.