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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
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. ...
CanVar: A resource for sharing germline variation in cancer patients.
The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of ...
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of ...
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ...