Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis Journal Article
| Authors: | Raoof, M.; Canter, R. J.; Paty, P. B. |
| Article Title: | Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis |
| Abstract: | 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. |
| Keywords: | adult; middle aged; unclassified drug; gene mutation; genetics; mutation; cancer localization; case report; advanced cancer; adenocarcinoma; phenotype; gene expression; protein; pathology; germ line; sibling; colon adenocarcinoma; germ-line mutation; adenomatous polyp; genotype phenotype correlation; adenomatous polyposis coli; attenuated familial adenomatous polyposis; dna glycosylase muty; dna glycosylases; colon polyposis; protein myh; dna glycosyltransferase |
| Journal Title: | American Surgeon |
| Volume: | 73 |
| Issue: | 12 |
| ISSN: | 0003-1348 |
| Publisher: | Southeastern Surgical Congress |
| Date Published: | 2007-12-01 |
| Start Page: | 1250 |
| End Page: | 1253 |
| Language: | English |
| PUBMED: | 18186383 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 1" - "Export Date: 17 November 2011" - "CODEN: AMSUA" - "Source: Scopus" |
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