Browsing ICR Divisions by author "Chubb, Daniel"
Now showing items 1-5 of 5
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CanVar: A resource for sharing germline variation in cancer patients.
Chubb, D; Broderick, P; Dobbins, SE; Houlston, RS (F1000 Research Ltd, 2016-01-01)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 ... -
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb, D; Broderick, P; Dobbins, SE; Frampton, M; Kinnersley, B; et al. (NATURE PUBLISHING GROUP, 2016-06-22)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. ... -
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Wang, Y; McKay, JD; Rafnar, T; Wang, Z; Timofeeva, MN; et al. (NATURE PUBLISHING GROUP, 2014-09-11)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 ... -
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
Scales, M; Chubb, D; Dobbins, SE; Johnson, DC; Li, N; et al. (IMPACT JOURNALS LLC, 2017-05-30)The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome ... -
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
Dobbins, SE; Broderick, P; Chubb, D; Kinnersley, B; Sherborne, AL; et al. (SPRINGER, 2016-06-29)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 ...