Risk of colorectal adenomas and cancer in monoallelic carriers of MUTYH pathogenic variants: a single-centre experience.

Content Provider	Europe PMC
Author	Patel, R. McGinty, P. Cuthill, V. Hawkins, M. Clark, S. K. Latchford, A.
Abstract	PurposeThe carrier frequency of MUTYH pathogenic variants in the population may be as high as one in 45. Some studies have found an increased risk of colorectal cancer (CRC) in monoallelic carriers of MUTYH pathogenic variants, but the role of early surveillance colonoscopy is not conclusive. This study aimed to assess the outcomes of colonoscopy surveillance in MUTYH carriers.MethodsPatients, with a monoallelic pathogenic variant in MUTYH, found at cascade testing, were identified from the St Mark’s Hospital Polyposis Registry database. Findings at surveillance colonoscopy were reviewed.ResultsTwo hundred and forty-nine carriers were identified, of whom 125 had undergone at least one surveillance colonoscopy. Twenty-eight patients (22%) developed at least one adenoma; all adenomas had low-grade dysplasia (LGD). The median age at first colonoscopy was 36 years (range 16–75 years). The median age at first adenoma detection was 43 years (range 22–75 years). The cumulative incidence of adenoma development by age 30, 40, 50, 60 and 70 years was 3.2%, 8.8%, 15.2%, 18.4% and 20.8%, respectively. No CRCs were observed.ConclusionsOur cohort of monoallelic carriers of MUTYH pathogenic variants is a relatively younger group than adults entering population screening colonoscopy, but a high adenoma rate was not observed. No CRCs were detected, suggesting that current guidance that these individuals should be managed in the same way as the general population is reasonable.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC8426294&blobtype=pdf
ISSN	01791958
Journal	International Journal of Colorectal Disease [Int J Colorectal Dis]
Volume Number	36
DOI	10.1007/s00384-021-03983-x
PubMed Central reference number	PMC8426294
Issue Number	10
PubMed reference number	34244858
e-ISSN	14321262
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2021-07-09
Publisher Place	Berlin/Heidelberg
Access Restriction	Open
Rights License	Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2021
Subject Keyword	MAP MYH associated polyposis MUTYH associated polyposis Hereditary gastrointestinal cancer
Content Type	Text
Resource Type	Article
Subject	Gastroenterology