dc.contributor.author | McVeigh, TP | en_US |
dc.contributor.author | Duff, M | en_US |
dc.contributor.author | Carroll, C | en_US |
dc.contributor.author | O'Shea, R | en_US |
dc.contributor.author | Bradley, L | en_US |
dc.contributor.author | Farrell, M | en_US |
dc.contributor.author | Gallagher, DJ | en_US |
dc.contributor.author | Clabby, C | en_US |
dc.contributor.author | Green, AJ | en_US |
dc.date.accessioned | 2019-05-29T13:26:28Z | |
dc.date.issued | 2016-12-12 | |
dc.identifier.citation | Irish medical journal, 2016, 109 (10), pp. 485 - ? | |
dc.identifier.issn | 0332-3102 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/3244 | |
dc.description.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. | en_US |
dc.format | Electronic | |
dc.format.extent | 485 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.rights.uri | https://www.rioxx.net/licenses/all-rights-reserved | |
dc.subject | Humans | en_US |
dc.subject | Adenomatous Polyposis Coli | en_US |
dc.subject | Colorectal Neoplasms | en_US |
dc.subject | Intestinal Polyps | en_US |
dc.subject | Genetic Predisposition to Disease | en_US |
dc.subject | DNA Glycosylases | en_US |
dc.subject | Incidence | en_US |
dc.subject | Retrospective Studies | en_US |
dc.subject | Genotype | en_US |
dc.subject | Phenotype | en_US |
dc.subject | Mutation | en_US |
dc.subject | Ireland | en_US |
dc.title | MUTYH-Associated Polyposis: The Irish Experience>. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2016-12-12 | |
rioxxterms.licenseref.uri | https://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2016-12-12 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Irish medical journal | en_US |
pubs.issue | 10 | |
pubs.notes | No embargo | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/Royal Marsden Clinical Units | |
pubs.publication-status | Published | |
pubs.volume | 109 | en_US |
pubs.embargo.terms | No embargo | |
dc.contributor.icrauthor | McVeigh, Terri | |