Journal Article

DKFZ-2022-00051

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival.

Labadie, J. D. ; Savas, S. ; Harrison, T. A. ; Banbury, B. ; Huang, Y. ; Buchanan, D. D. ; Campbell, P. T. ; Gallinger, S. J. ; Giles, G. G. ; Gunter, M. J. ; Hoffmeister, M.DKFZ* ; Hsu, L. ; Jenkins, M. A. ; Lin, Y. ; Ogino, S. ; Phipps, A. I. ; Slattery, M. L. ; Steinfelder, R. S. ; Sun, W. ; Van Guelpen, B. ; Hua, X. ; Figuieredo, J. C. ; Pai, R. K. ; Nassir, R. ; Qi, L. ; Chan, A. T. ; Peters, U. ; Newcomb, P. A.

2022
Macmillan Publishers Limited, part of Springer Nature [London]

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Please use a persistent id in citations: doi:10.1038/s41598-021-03945-x

Abstract: Identification of new genetic markers may improve the prediction of colorectal cancer prognosis. Our objective was to examine genome-wide associations of germline genetic variants with disease-specific survival in an analysis of 16,964 cases of colorectal cancer. We analyzed genotype and colorectal cancer-specific survival data from a consortium of 15 studies. Approximately 7.5 million SNPs were examined under the log-additive model using Cox proportional hazards models, adjusting for clinical factors and principal components. Additionally, we ran secondary analyses stratifying by tumor site and disease stage. We used a genome-wide p-value threshold of 5 × 10-8 to assess statistical significance. No variants were statistically significantly associated with disease-specific survival in the full case analysis or in the stage-stratified analyses. Three SNPs were statistically significantly associated with disease-specific survival for cases with tumors located in the distal colon (rs698022, HR = 1.48, CI 1.30-1.69, p = 8.47 × 10-9) and the proximal colon (rs189655236, HR = 2.14, 95% CI 1.65-2.77, p = 9.19 × 10-9 and rs144717887, HR = 2.01, 95% CI 1.57-2.58, p = 3.14 × 10-8), whereas no associations were detected for rectal tumors. Findings from this large genome-wide association study highlight the potential for anatomical-site-stratified genome-wide studies to identify germline genetic risk variants associated with colorectal cancer-specific survival. Larger sample sizes and further replication efforts are needed to more fully interpret these findings.

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Contributing Institute(s):

1. C070 Klinische Epidemiologie und Alternf. (C070)

Research Program(s):

1. 313 - Krebsrisikofaktoren und Prävention (POF4-313) (POF4-313)

Appears in the scientific report 2022

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