Browsing Genetics and Epidemiology by author "Broderick, Peter"
Now showing items 21-28 of 28
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Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
Orlando, G; Law, PJ; Cornish, AJ; Dobbins, SE; Chubb, D; et al. (NATURE PUBLISHING GROUP, 2018-10-01)Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the ... -
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 disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
Litchfield, K; Levy, M; Dudakia, D; Proszek, P; Shipley, C; et al. (NATURE PUBLISHING GROUP, 2016-12-20)Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ... -
Runs of homozygosity and testicular cancer risk.
Loveday, C; Sud, A; Litchfield, K; Levy, M; Holroyd, A; et al. (WILEY, 2019-07-01)BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has ... -
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 ... -
Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer.
Loveday, C; Litchfield, K; Levy, M; Holroyd, A; Broderick, P; et al. (Impact Journals, LLC, 2018-02-27)Testicular germ cell tumor (TGCT), the most common cancer in men aged 18 to 45 years, has a strong heritable basis. Genome-wide association studies (GWAS) have proposed single nucleotide polymorphisms (SNPs) at a number ... -
Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
Broderick, P; Dobbins, SE; Chubb, D; Kinnersley, B; Dunlop, MG; et al. (W B SAUNDERS CO-ELSEVIER INC, 2017-01-01)High-throughput sequencing analysis has accelerated searches for genes associated with risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1, TP53, BUB1, BUB3, LRP6, and PTPN12 have been recently ... -
Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
Litchfield, K; Summersgill, B; Yost, S; Sultana, R; Labreche, K; et al. (NATURE PUBLISHING GROUP, 2015-01-22)Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly ...