Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis.
Germline mutations in the Mutant-Y-homologue (MYH) gene have been linked to an attenuated form of familial adenomatous polyposis in patients who express a wild-type adenomatous polyposis coli gene. However, the diverse clinical manifestations of MYH mutations have not been fully elucidated. We report a case of siblings with identical germline mutations in the MYH gene, one of whom developed a locally advanced colon adenocarcinoma with few other adenomatous lesions, whereas the other had numerous benign colonic polyps. The variable genotype-phenotype manifestations of MYH mutations and the attenuated familial adenomatous polyposis syndrome are discussed.
Raoof
Mustafa
M
Department of Surgery, Division of Colorectal Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.
Canter
Robert J
RJ
Paty
Philip B
PB
D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology*; D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D045647:DNA Glycosylases / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase