Article
Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.
Gastroenterology - 1 Feb 2007
Will Olivia, Carvajal-Carmona Luis G, Gorman Patricia, Howarth Kimberley M, Jones Angela M, Polanco-Echeverry Guadalupe M, Chinaleong Jo-Anne, Günther Thomas, Silver Andrew, Clark Susan K, Tomlinson Ian
Abstract excerpt
BACKGROUND & AIMS: We report a patient of Indian descent with parental consanguinity, who developed 10 carcinomas and 35 adenomatous polyps at age 23 and duodenal adenocarcinoma at age 25. He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis. METHODS: Germ-line screening for APC and MYH/MUTYH mutations was normal as was...
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