Browsing Genetics and Epidemiology by author "Turnbull, Clare"
Now showing items 1-20 of 34
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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday, C; Garrett, A; Law, P; Hanks, S; Poyastro-Pearson, E; et al. (ELSEVIER, 2022-12-01)BACKGROUND: Breast cancer has a significant heritable basis, of which ∼60% remains unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk within families, and identification of additional ... -
Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.
Zhang, YD; Hurson, AN; Zhang, H; Choudhury, PP; Easton, DF; et al. (NATURE PORTFOLIO, 2020-07-03)Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of ... -
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 ... -
Collateral damage: the impact on outcomes from cancer surgery of the COVID-19 pandemic.
Sud, A; Jones, ME; Broggio, J; Loveday, C; Torr, B; et al. (ELSEVIER, 2020-08-01)BACKGROUND: Cancer diagnostics and surgery have been disrupted by the response of health care services to the coronavirus disease 2019 (COVID-19) pandemic. Progression of cancers during delay will impact on patients' ... -
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
Fehringer, G; Kraft, P; Pharoah, PD; Eeles, RA; Chatterjee, N; et al. (AMER ASSOC CANCER RESEARCH, 2016-09-01)Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-stage approach to conduct genome-wide association studies for lung, ovary, breast, prostate, ... -
Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study.
Sud, A; Torr, B; Jones, ME; Broggio, J; Scott, S; et al. (ELSEVIER SCIENCE INC, 2020-08-01)BACKGROUND: During the COVID-19 lockdown, referrals via the 2-week-wait urgent pathway for suspected cancer in England, UK, are reported to have decreased by up to 84%. We aimed to examine the impact of different scenarios ... -
Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson, DJ; Genovese, G; Halvardson, J; Ulirsch, JC; Wright, DJ; et al. (NATURE PORTFOLIO, 2019-11-28)Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, ... -
Genome-wide association study of germline variants and breast cancer-specific mortality.
Escala-Garcia, M; Guo, Q; Dörk, T; Canisius, S; Keeman, R; et al. (NATURE PUBLISHING GROUP, 2019-03-19)BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models ... -
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 ... -
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles, C; West, HD; Chew, E; Galavotti, S; Flensburg, C; et al. (CELL PRESS, 2022-05-05)We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic ... -
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong, L; Huntley, C; McRonald, F; Santaniello, F; Pethick, J; et al. (BMJ PUBLISHING GROUP, 2022-12-26)OBJECTIVE: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the ... -
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Speight, B; Hanson, H; Turnbull, C; Hardy, S; Drummond, J; et al. (WILEY, 2023-02-06)The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of individuals with either potential or confirmed germline predisposition to ... -
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 four novel susceptibility loci for oestrogen receptor negative breast cancer.
Couch, FJ; Kuchenbaecker, KB; Michailidou, K; Mendoza-Fandino, GA; Nord, S; et al. (NATURE PORTFOLIO, 2016-04-27)Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ... -
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Zeng, C; Guo, X; Long, J; Kuchenbaecker, KB; Droit, A; et al. (BMC, 2016-06-21)BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale ... -
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 ...