Publications Repository

Publications Repository

View item 
  •   Home
  • ICR Divisions
  • Other ICR Research
  • View item
  • Home
  • ICR Divisions
  • Other ICR Research
  • View item
JavaScript is disabled for your browser. Some features of this site may not work without it.

MUTYH-Associated Polyposis: The Irish Experience>.

Thumbnail
View/Open
Accepted version (385.5Kb)
Date
2016-12-12
ICR Author
McVeigh, Terri
Author
McVeigh, TP
Duff, M
Carroll, C
O'Shea, R
Bradley, L
Farrell, M
Gallagher, DJ
Clabby, C
Green, AJ
Show allShow less
Type
Journal Article
Metadata
Show full item record
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.
URI
https://repository.icr.ac.uk/handle/internal/3244
Collections
  • Other ICR Research
Subject
Humans
Adenomatous Polyposis Coli
Colorectal Neoplasms
Intestinal Polyps
Genetic Predisposition to Disease
DNA Glycosylases
Incidence
Retrospective Studies
Genotype
Phenotype
Mutation
Ireland
Language
eng
Date accepted
2016-12-12
License start date
2016-12-12
Citation
Irish medical journal, 2016, 109 (10), pp. 485 - ?

Browse

All of ICR repositoryICR DivisionsBy issue dateAuthorsTitlesPublication TypesThis collectionBy issue dateAuthorsTitlesPublication Types
  • Login
  • Registered office: The Institute of Cancer Research, 123 Old Brompton Road, London, SW7 3RP
    A Charity, Not for Profit. Company Limited by Guarantee.
    Registered in England No. 534147. VAT Registration No. GB 849 0581 02.