Risk of colorectal adenomas and cancer in monoallelic carriers of MUTYH pathogenic variants: a single-centre experience
| Autor: | Susan K. Clark, Vicky Cuthill, Roshani Patel, Andrew Latchford, P. McGinty, Menna Hawkins |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adenoma
Adult medicine.medical_specialty Heterozygote Adolescent Colorectal cancer Population Colonoscopy DNA Glycosylases MUTYH associated polyposis 03 medical and health sciences Young Adult 0302 clinical medicine MUTYH Internal medicine medicine Humans Cumulative incidence education MYH associated polyposis Aged education.field_of_study medicine.diagnostic_test business.industry MUTYH-Associated Polyposis Gastroenterology Middle Aged medicine.disease Hereditary gastrointestinal cancer Adenomatous Polyposis Coli Dysplasia 030220 oncology & carcinogenesis Mutation MAP 030211 gastroenterology & hepatology Original Article business Colorectal Neoplasms |
| Zdroj: | International Journal of Colorectal Disease |
| ISSN: | 1432-1262 |
| Popis: | Purpose The 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. Methods Patients, 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. Results Two 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. Conclusions Our 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink