caa a22 4500 445330554 CHVBK 20180317142735.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10689-010-9399-5 doi (NATIONALLICENCE)springer-10.1007/s10689-010-9399-5 Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis [Elektronische Daten] [Aung Win, John Hopper, Mark Jenkins] Whether people who inherit a mutation in MUTYH from only one parent (monoallelic mutation) are at increased risk of colorectal cancer (CRC) remains controversial. Most previous studies and meta-analyses have not found statistically significant associations but, given carriers are relatively rare, may be underpowered to detect small increased risks. We have conducted a systematic review and meta-regression analysis of previously published case-control studies to estimate the strength of association for monoallelic MUTYH mutation and CRC risk. Potential sources of heterogeneity were evaluated. We have compared the carrier frequency in cases with a family history of CRC to that of controls, as a novel and powerful design, to measure statistical evidence of an association but not the strength of association. The magnitude of the genotype-disease association, estimated from a pooled odds ratio comparing cases unselected for family history with controls, was 1.15 (95% CI=0.98-1.36) and not substantially altered by adjustment for potential sources of heterogeneity. Monoallelic mutation carrier frequency was greater for cases ascertained due to a family history (3.3%; SE 0.9%) than for controls (1.4%; SE 0.3%) (P=0.02). Monoallelic MUTYH mutation carriers are at increased risk of CRC but the average increase is small. Springer Science+Business Media B.V., 2010 MUTYH nationallicence Colorectal cancer nationallicence Family history nationallicence CRC : Colorectal cancer nationallicence HNPCC : Hereditary non-polyposis colorectal cancer nationallicence MUTYH : Human MutY homologue nationallicence MMR : Mismatch repair nationallicence FAP : Familial adenomatous polyposis nationallicence APC : Adenomatous polyposis coli nationallicence IBD : Inflammatory bowel disease nationallicence CI : Confidence interval nationallicence OR : Odds ratio nationallicence SE : Standard error nationallicence Win Aung Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Level 1, 723 Swanston Street, 3010, Melbourne, VIC, Australia aut Hopper John Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Level 1, 723 Swanston Street, 3010, Melbourne, VIC, Australia aut Jenkins Mark Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Level 1, 723 Swanston Street, 3010, Melbourne, VIC, Australia aut Familial Cancer Springer Netherlands 10/1(2011-03-01), 1-9 1389-9600 10:1<1 2011 10 10689 https://doi.org/10.1007/s10689-010-9399-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9399-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Win Aung Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Level 1, 723 Swanston Street, 3010, Melbourne, VIC, Australia aut NATIONALLICENCE 700 1- Hopper John Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Level 1, 723 Swanston Street, 3010, Melbourne, VIC, Australia aut NATIONALLICENCE 700 1- Jenkins Mark Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Level 1, 723 Swanston Street, 3010, Melbourne, VIC, Australia aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/1(2011-03-01), 1-9 1389-9600 10:1<1 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer