Projects per year
Abstract / Description of output
Genome‐wide association studies have thus far identified 130 genetic variants linked to colorectal cancer (CRC) risk (r2<0.2). Given their implication in disease causation, and thus plausible biologically effects on cancer‐relevant biological pathways, we investigated whether these variants are associated with CRC prognosis and also whether they might provide predictive value for survival outcome. We conducted the analysis in a well‐characterised population‐based study of 5,675 patients after CRC diagnosis in Scotland. None of the genetic risk variants were associated with either overall survival (OS) or CRC‐specific survival. Next, we combined the variants in a polygenic risk score, but again we observed no association between survival outcome and overall genetic susceptibility to CRC risk ‐ as defined by common genetic variants (OS: hazard ratio=1.00, 95% confidence interval=0.96‐1.05). Furthermore, we found no incremental increase in the discriminative performance when adding these genetic variants to the baseline CRC‐survival predictive model of age, sex and stage at diagnosis. Given that this study is well‐powered (>0.88) to detect effects on survival for 74% of the variants, we conclude that effects of common variants associated with CRC risk which have been identified to date are unlikely to have clinically relevant effect on survival outcomes for patients diagnosed with CRC.
Original language | English |
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Journal | International Journal of Cancer |
Early online date | 4 Jul 2019 |
DOIs | |
Publication status | Published - 1 Nov 2019 |
Keywords / Materials (for Non-textual outputs)
- common genetic variants
- Colorectal cancer
- SURVIVAL
- cohort study
Fingerprint
Dive into the research topics of 'Effects of common genetic variants associated with colorectal cancer risk on survival outcomes after diagnosis: a large population-based cohort study.'. Together they form a unique fingerprint.Projects
- 3 Finished
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Colorectal cancer reduction through risk stratification of screening, follow-up and treatment
1/05/17 → 30/04/23
Project: Research
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Investigation of gene-environment interactions between Vitamin D and colorectal cancer susceptibility genetic variants in large bowel epithelium.
Vaughan-Shaw, P.
1/02/15 → 1/02/17
Project: Research
Profiles
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Farhat Din
- Deanery of Molecular, Genetic and Population Health Sciences - Personal Chair Bowel Cancer UK Royal College of Surgeons of
- Edinburgh Cancer Research Centre
Person: Academic: Research Active