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Multiple Colorectal Adenomas, Classic Adenomatous Polyposis, and Germ-Line Mutations in MYH

✍ Scribed by Sieber, Oliver M.; Lipton, Lara; Crabtree, Michael; Heinimann, Karl; Fidalgo, Paulo; Phillips, Robin K.S.; Bisgaard, Marie-Luise; Orntoft, Torben F.; Aaltonen, Lauri A.; Hodgson, Shirley V.; Thomas, Huw J.W.; Tomlinson, Ian P.M.

Book ID
120160019
Publisher
Massachusetts Medical Society
Year
2003
Tongue
English
Weight
150 KB
Volume
348
Category
Article
ISSN
0096-6762

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Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC

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## Abstract Biallelic germline mutations in the base excision repair gene __MYH__ have been reported in patients with multiple colorectal adenomas and cancer and in sporadic FAP patients not showing a detectable __APC__ germline mutation. In this study, the prevalence of the common Y165C and G382D