Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH

Jones, Natalie, Vogt, Stefanie, Nielsen, Maartje, Christian, Daria, Wark, Petra A., Eccles, Diana, Edwards, Emma, Evans, D. Gareth, Maher, Eamonn R., Vasen, Hans F., Hes, Frederik J., Aretz, Stefan and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2009. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137 (2) , pp. 489-494. 10.1053/j.gastro.2009.04.047

Full text not available from this repository.

Abstract

Background & Aims: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder caused by mutations in the MUTYH gene. Patients with MAP are at extremely high risk of colorectal cancer, but the risks of colorectal and other cancers in heterozygous carriers of a single MUTYH mutation are uncertain. We performed a retrospective study of cancer incidence and causes of death among obligate MUTYH heterozygote individuals. Methods: MAP index cases were identified from polyposis registers in Germany, The Netherlands, and the United Kingdom. Cancer incidence, cancer mortality, and all-cause mortality data were collected from 347 parents of unrelated MAP index cases and the spouses of 3 index cases who were also found to be heterozygous for single MUTYH mutations. These data were compared with appropriate national sex-, age-, and period-specific population data to obtain standardized mortality ratios (SMR) and standardized incidence ratios (SIR). Results: There was a 2-fold increase in the incidence of colorectal cancer among parents of MAP cases, compared with the general population (SIR, 2.12; 95% confidence interval [CI]: 1.30–3.28). Their colorectal cancer mortality was not increased significantly (SMR, 1.02; 95% CI: 0.41–2.10) nor was overall cancer risk (SIR, 0.92; 95% CI: 0.70–1.18), cancer mortality (SMR, 1.12; 95% CI: 0.83–1.48), or overall mortality (SMR, 0.94; 95% CI: 0.80–1.08). Conclusions: The risk of colorectal cancer in heterozygous carriers of single MUTYH mutations who are relatives of patients with MAP is comparable with that of first-degree relatives of patients with sporadic colorectal cancer. Screening measures should be based on this modest increase in risk.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Publisher: Elsevier
ISSN: 0016-5085
Last Modified: 19 Oct 2022 10:40
URI: https://orca.cardiff.ac.uk/id/eprint/25146

Citation Data

Cited 100 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item