Browsing Genetics and Epidemiology by author "Turnbull, Clare"
Now showing items 21-34 of 34
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Mendelian randomisation study of the relationship between vitamin D and risk of glioma.
Takahashi, H; Cornish, AJ; Sud, A; Law, PJ; Kinnersley, B; et al. (NATURE PORTFOLIO, 2018-02-05)To examine for a causal relationship between vitamin D and glioma risk we performed an analysis of genetic variants associated with serum 25-hydroxyvitamin D (25(OH)D) levels using Mendelian randomisation (MR), an approach ... -
Mendelian randomization provides support for obesity as a risk factor for meningioma.
Takahashi, H; Cornish, AJ; Sud, A; Law, PJ; Disney-Hogg, L; et al. (NATURE PORTFOLIO, 2019-01-22)Little is known about the causes of meningioma. Obesity and obesity-related traits have been reported in several epidemiological observational studies to be risk factors for meningioma. We performed an analysis of genetic ... -
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
Yang, X; Song, H; Leslie, G; Engel, C; Hahnen, E; et al. (OXFORD UNIV PRESS INC, 2020-12-14)BACKGROUND: The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D. METHODS: We analyzed data from ... -
Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study.
Loveday, C; Sud, A; Jones, ME; Broggio, J; Scott, S; et al. (BMJ PUBLISHING GROUP, 2020-08-27)OBJECTIVE: To evaluate the impact of faecal immunochemical testing (FIT) prioritisation to mitigate the impact of delays in the colorectal cancer (CRC) urgent diagnostic (2-week-wait (2WW)) pathway consequent from the ... -
Publisher Correction: Cancer genetics, precision prevention and a call to action.
Turnbull, C; Sud, A; Houlston, RS (2019-01)In the version of this article originally published, there was an error in the second-to-last sentence of the abstract. In this sentence, the final phrase "to identify carriers of first-wave gene mutation carriers" should ... -
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; et al. (ELSEVIER SCIENCE INC, 2022-01-01)PURPOSE: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain. ... -
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 ... -
Realistic expectations are key to realising the benefits of polygenic scores.
Sud, A; Horton, RH; Hingorani, AD; Tzoulaki, I; Turnbull, C; et al. (BMJ PUBLISHING GROUP, 2023-02-28)We must not let enthusiasm around polygenic scores allow us to forget other factors that are bigger, more modifiable, and relevant for everyone, argue Amit Sud, Rachel Horton, and colleagues -
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 ... -
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Hanson, H; Durkie, M; Lalloo, F; Izatt, L; McVeigh, TP; et al. (BMJ PUBLISHING GROUP, 2022-03-08)SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV carriers present with ... -
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 ... -
Weekly COVID-19 testing with household quarantine and contact tracing is feasible and would probably end the epidemic.
Peto, J; Carpenter, J; Smith, GD; Duffy, S; Houlston, R; et al. (ROYAL SOC, 2020-06-24)The COVID-19 epidemic can probably be ended and normal life restored, perhaps quite quickly, by weekly SARS-CoV-2 RNA testing together with household quarantine and systematic contact tracing. Isolated outbreaks could then ... -
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 ... -
Will polygenic risk scores for cancer ever be clinically useful?
Sud, A; Turnbull, C; Houlston, R (NATURE RESEARCH, 2021-05-21)