Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

@article{Chubb2016RareDM,
  title={Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer},
  author={D. Chubb and P. Broderick and Sara E Dobbins and M. Frampton and B. Kinnersley and S. Penegar and Amy Price and Yussanne Ma and A. Sherborne and C. Palles and M. Timofeeva and D. Bishop and M. Dunlop and I. Tomlinson and R. Houlston},
  journal={Nature Communications},
  year={2016},
  volume={7}
}
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. In this study, we assay the impact of rare germline mutations on CRC, analysing high-coverage exome sequencing data on 1,006 early-onset familial CRC cases and 1,609 healthy controls, with additional sequencing and array data on up to 5,552 cases and 6,792 controls. We… Expand
Germline determinants of colorectal cancer risk and outcome
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer
The missing heritability of familial colorectal cancer
Inherited DNA-Repair Defects in Colorectal Cancer.
Expanding the spectrum of germline variants in cancer
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 36 REFERENCES
National study of colorectal cancer genetics
POT1 loss-of-function variants predispose to familial melanoma
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
  • Robbert D A Weren, Marjolijn J L Ligtenberg, +18 authors N. Hoogerbrugge
  • Biology, Medicine
  • Nature Genetics
  • 2015
Germline mutations in shelterin complex genes are associated with familial glioma.
Architecture of inherited susceptibility to common cancer
...
1
2
3
4
...