Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
Gunilla Kanter-SmolerMargareta Nordling

Abstract

Biallelic mutations in the base-excision repair gene MYH have recently been associated with recessive inheritance of multiple colorectal adenomas. An investigation and characterization of MYH mutations in Swedish patients were therefore carried out. A set of 15 unrelated adenomatous polyposis coli (APC)-mutation negative patients from the Swedish Polyposis Registry was screened for germline mutations in the MYH gene. The patients were clinically characterized and compared with 43 APC-mutation positive probands diagnosed during the same period. Disease-causing biallelic MYH mutations were identified in 6 patients (40%). The mean age at diagnosis was 47.8 years versus 34.1 years in APC-mutation positive patients (P = .015). Colorectal cancer at diagnosis of polyposis was present in 67% (4/6) of the patients, and all were right-sided, compared with only 19% versus 12.5% right-sided cancer in APC-mutation positive patients. Upper gastrointestinal manifestations were diagnosed in 1 of 5 compared with 23 of 27 in APC-mutation positive patients (odds ratio, 23; 95% confidence interval, 2-263; P = .0086). One family exhibited apparent dominant inheritance of colorectal adenomatous polyposis. Two new pathogenic mutations, MYH p.G175E an...Continue Reading

Citations

Apr 25, 2008·BMC Medicine·Gunilla Kanter-SmolerMargareta Nordling
May 3, 2014·International Journal of Oncology·Anna RohlinMargareta Nordling
Sep 8, 2009·Gastroenterology·Stefanie VogtStefan Aretz
May 6, 2009·Best Practice & Research. Clinical Gastroenterology·Julian R Sampson, Natalie Jones
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Mar 13, 2014·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·G H LeeS K Clark
Nov 14, 2017·The Journal of Development Studies·Jason DavisRichard Bilsborrow

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