MUTYH-Associated Polyposis: The Irish Experience>.
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ICR Authors
Authors
McVeigh, TP
Duff, M
Carroll, C
O'Shea, R
Bradley, L
Farrell, M
Gallagher, DJ
Clabby, C
Green, AJ
Duff, M
Carroll, C
O'Shea, R
Bradley, L
Farrell, M
Gallagher, DJ
Clabby, C
Green, AJ
Document Type
Journal Article
Date
2016-12-12
Date Accepted
2016-12-12
Abstract
MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH". Phenotypic and genotypic details were obtained by chart review. Bi-allelic mutations were confirmed in 26 individuals (17 families), of whom 16 (62%) developed colorectal malignancies, and 22(85%) polyposis. Eleven families had bi-allelic status for one/both common European mutations. Regional variation was noted, with over-representation of bi-allelic mutation carriers in the South-west of Ireland. MAP is under-diagnosed in Ireland. Increased awareness is required to facilitate appropriate identification and surveillance of bi-allelic mutation carriers for colorectal pathology.
Citation
Irish medical journal, 2016, 109 (10), pp. 485 - ?
DOI
Source Title
Publisher
ISSN
0332-3102