Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Journal article

BACKGROUND: Germ-line mutations in the base-excision-repair gene MYH have been associated with recessive inheritance of multiple colorectal adenomas. Tumors from affected persons displayed excess somatic transversions of a guanine-cytosine pair to a thymine-adenine pair (G:C-->T:A) in the APC gene. METHODS: We screened for germ-line MYH mutations in 152 patients with multiple (3 to 100) colorectal adenomas and 107 APC-mutation-negative probands with classic familial adenomatous polyposis ...

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Authors: Sieber, O; Lipton, L; Crabtree, M; Heinimann, K; Fidalgo, P

• Journal: New England journal of medicine
• Volume: 348
• Issue: 9
• Pages: 791-799
• Publication date: 2003-02-01
• DOI: 10.1056/nejmoa025283
• EISSN: 1533-4406
• ISSN: 0028-4793
• Language: English
• Keywords: Female; Humans; DNA-Formamidopyrimidine Glycosylase; Adolescent; DNA Repair Enzymes; Adenoma; N-Glycosyl Hydrolases; Child; Loss of Heterozygosity; Colorectal Neoplasms; Germ-Line Mutation; Middle Aged; Phosphoric Monoester Hydrolases; Male; Adenomatous Polyposis Coli; Aged; Genes, APC; Adult; Case-Control Studies; DNA Glycosylases