Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

BACKGROUND and 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...

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Bibliographic Details
Main Authors:	Will, O, Carvajal-Carmona, L, Gorman, P, Howarth, K, Jones, A, Polanco-Echeverry, G, Chinaleong, J, Günther, T, Silver, A, Clark, S, Tomlinson, I
Format:	Journal article
Language:	English
Published:	2007

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