Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer

@article{Timofeeva2015RecurrentCS,
  title={Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer},
  author={M. Timofeeva and B. Kinnersley and S. Farrington and N. Whiffin and C. Palles and V. Svinti and A. Lloyd and M. Gorman and L. Ooi and F. Hosking and E. Barclay and L. Zgaga and Sara E Dobbins and Lynn J. Martin and E. Theodoratou and P. Broderick and A. Tenesa and C. Smillie and G. Grimes and C. Hayward and A. Campbell and D. Porteous and I. Deary and S. Harris and Emma L. Northwood and J. Barrett and Gillian Smith and R. Wolf and D. Forman and H. Morreau and D. Ruano and C. Tops and J. Wijnen and Melanie Schrumpf and A. Boot and H. Vasen and F. Hes and T. van Wezel and A. Franke and W. Lieb and C. Schafmayer and J. Hampe and S. Buch and P. Propping and K. Hemminki and A. F{\"o}rsti and H. Westers and R. Hofstra and M. Pinheiro and C. Pinto and M. Teixeira and C. Ruiz-Ponte and C. Fern{\'a}ndez-Rozadilla and {\'A}. Carracedo and A. Castells and S. Castellv{\'i}-Bel and H. Campbell and D. Bishop and I. Tomlinson and M. Dunlop and R. Houlston},
  journal={Scientific Reports},
  year={2015},
  volume={5}
}
Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of CRC remains unexplained. To examine the role of recurrent coding sequence variation in CRC aetiology, we genotyped 12,638 CRCs cases and 29,045 controls from six European populations. Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10−7), and novel damaging… Expand
23 Citations
Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer
Genome-wide scan of the effect of common nsSNPs on colorectal cancer survival outcome
...
1
2
3
...

References

SHOWING 1-10 OF 68 REFERENCES
The TERT variant rs2736100 is associated with colorectal cancer risk
...
1
2
3
4
5
...