Association of MUTYH and colorectal cancer

By A. Tenesa, Harry Campbell, H. Campbell, R. Barnetson, M. Porteous, M. Dunlop, S. Farrington. 2006

102 citations recorded by the source corpus.

Mutations in the MUTYH gene have been reported to be associated with increased risk of developing colorectal cancer. In this study, we confirmed this association using original data on 928 colorectal cancer cases and 845 healthy controls from Scotland. We then conducted a meta-analysis from published data on the association between mutations at MUTYH and colorectal cancer risk. We show for the first time a small but significant mono-allelic effect with a genotype relative risk (GRR) of 1.27 (95% confidence interval (CI): 1.01–1.61), and confirm and give a more precise estimate of the strong bi-allelic effect with an estimated GRR of 117 (95% CI: 74–184). This study underscores the need for large sample sizes in order to identify small gene effects when the disease allele frequency is low.

Subfields: Cancer Research, Molecular Biology, Pathology and Forensic Medicine

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

S. Cairns
J. Scholefield
M. Rutter
R. Steele
B. Saunders
H. Thomas
G. Evans
W. Atkin

Citations in the corpus

Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002) (2010, background): “Polyps can be exclusively adenomatous or mixed adenomatous/hyperplastic. Since the mode of inheritance is autosomal recessive, lack of vertical transmission of the polyposis phenotype in the family should raise the possibility of MUTYH-associated polyposis (MAP). Siblings are at 25% risk of carrying”