Browsing Molecular Pathology by author "Turnbull, Clare"
Now showing items 1-15 of 15
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A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
Torr, B; Jones, C; Choi, S; Allen, S; Kavanaugh, G; et al. (BMJ PUBLISHING GROUP, 2022-07-22)BACKGROUND: Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast ... -
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration,; Haycock, PC; Burgess, S; Nounu, A; Zheng, J; et al. (AMER MEDICAL ASSOC, 2017-05-01)IMPORTANCE: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding ... -
Genomic evolution and chemoresistance in germ-cell tumours.
Taylor-Weiner, A; Zack, T; O'Donnell, E; Guerriero, JL; Bernard, B; et al. (NATURE PUBLISHING GROUP, 2016-11-30)Germ-cell tumours (GCTs) are derived from germ cells and occur most frequently in the testes. GCTs are histologically heterogeneous and distinctly curable with chemotherapy. Gains of chromosome arm 12p and aneuploidy are ... -
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday, C; Litchfield, K; Proszek, PZ; Cornish, AJ; Santo, F; et al. (NATURE PUBLISHING GROUP, 2020-05-04)While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and ... -
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
Litchfield, K; Levy, M; Orlando, G; Loveday, C; Law, PJ; et al. (NATURE PUBLISHING GROUP, 2017-07-01)Genome-wide association studies (GWAS) have transformed understanding of susceptibility to testicular germ cell tumors (TGCTs), but much of the heritability remains unexplained. Here we report a new GWAS, a meta-analysis ... -
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
Ruark, E; Seal, S; McDonald, H; Zhang, F; Elliot, A; et al. (NATURE PUBLISHING GROUP, 2013-06-01)Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) ... -
Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology.
Loveday, C; Law, P; Litchfield, K; Levy, M; Holroyd, A; et al. (ELSEVIER SCIENCE BV, 2018-09-01)UNLABELLED: Testicular germ cell tumour (TGCT) is the most common cancer in young men. Multiplex TGCT families have been well reported and analyses of population cancer registries have demonstrated a four- to eightfold ... -
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Michailidou, K; Hall, P; Gonzalez-Neira, A; Ghoussaini, M; Dennis, J; et al. (NATURE PUBLISHING GROUP, 2013-04-01)Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We ... -
Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.
Litchfield, K; Loveday, C; Levy, M; Dudakia, D; Rapley, E; et al. (2018-06)Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ... -
Mendelian randomisation analysis provides no evidence for a relationship between adult height and testicular cancer risk.
Levy, M; Hall, D; Sud, A; Law, P; Litchfield, K; et al. (WILEY, 2017-09-01)Observational studies have suggested anthropometric traits, particularly increased height are associated with an elevated risk of testicular cancer (testicular germ cell tumour). However, there is an inconsistency between ... -
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.
Wang, Z; McGlynn, KA; Rajpert-De Meyts, E; Bishop, DT; Chung, CC; et al. (NATURE PORTFOLIO, 2017-07-01)The international Testicular Cancer Consortium (TECAC) combined five published genome-wide association studies of testicular germ cell tumor (TGCT; 3,558 cases and 13,970 controls) to identify new susceptibility loci. We ... -
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 ... -
The genomic landscape of testicular germ cell tumours: from susceptibility to treatment.
Litchfield, K; Levy, M; Huddart, RA; Shipley, J; Turnbull, C (NATURE PUBLISHING GROUP, 2016-07-01)The genomic landscape of testicular germ cell tumour (TGCT) can be summarized using four overarching hypotheses. Firstly, TGCT risk is dominated by inherited genetic factors, which determine nearly half of all disease risk ... -
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 ... -
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 ...