Article
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Nature genetics - 1 Jun 2015
Weren Robbert D A, Ligtenberg Marjolijn J L, Kets C Marleen, de Voer Richarda M, Verwiel Eugène T P, Spruijt Liesbeth, van Zelst-Stams Wendy A G, Jongmans Marjolijn C, Gilissen Christian, Hehir-Kwa Jayne Y, Hoischen Alexander, Shendure Jay, Boyle Evan A, Kamping Eveline J, Nagtegaal Iris D, Tops Bastiaan B J, Nagengast Fokko M, Geurts van Kessel Ad, van Krieken J Han J M, Kuiper Roland P, Hoogerbrugge Nicoline
Abstract excerpt
The genetic cause underlying the development of multiple colonic adenomas, the premalignant precursors of colorectal cancer (CRC), frequently remains unresolved in patients with adenomatous polyposis. Here we applied whole-exome sequencing to 51 individuals with multiple colonic adenomas from 48 families. In seven affected individuals from three unrelated families, we identified a homozygous germline nonsense...
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