Browsing ICR Divisions by author "Turnbull, Clare"
Now showing items 41-60 of 74
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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 ... -
Lung adenocarcinoma promotion by air pollutants.
Hill, W; Lim, EL; Weeden, CE; Lee, C; Augustine, M; et al. (NATURE PORTFOLIO, 2023-04-06)A complete understanding of how exposure to environmental substances promotes cancer formation is lacking. More than 70 years ago, tumorigenesis was proposed to occur in a two-step process: an initiating step that induces ... -
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 ... -
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 ... -
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 ... -
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 ... -
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.
Loveday, C; Josephs, K; Chubb, D; Gunning, A; Izatt, L; et al. (ENDOCRINE SOC, 2018-11-01)CONTEXT: To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC. OBJECTIVE: To gain ... -
Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.
Pujol, P; Yauy, K; Coffy, A; Duforet-Frebourg, N; Gabteni, S; et al. (MDPI, 2022-07-04)BACKGROUND: Poly(ADP-ribose) polymerase 1 inhibitor (PARPi) agents can improve progression-free survival of patients with breast cancer who carry a germline BRCA1 or BRCA2 pathogenic or likely pathogenic variant (gBRCA) ... -
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. ... -
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong, L; Cubuk, C; Choi, S; Allen, S; Torr, B; et al. (ELSEVIER SCIENCE INC, 2021-11-18)PURPOSE: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical ... -
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 -
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Loong, L; Garrett, A; Allen, S; Choi, S; Durkie, M; et al. (ELSEVIER SCIENCE INC, 2022-06-03)PURPOSE: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability ... -
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen, S; Loong, L; Garrett, A; Torr, B; Durkie, M; et al. (BMJ PUBLISHING GROUP, 2024-03-21)BACKGROUND: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level ... -
Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".
Turnbull, C; Loveday, C; Izatt, L; Ellard, S (ENDOCRINE SOC, 2018-09-01) -
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 ... -
Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
Talukdar, S; Hawkes, L; Hanson, H; Kulkarni, A; Brady, AF; et al. (BMJ PUBLISHING GROUP, 2019-11-01)Clinical testing with chromosomal microarray (CMA) is most commonly undertaken for clinical indications such as intellectual disability, dysmorphic features and/or congenital abnormalities. Identification of a structural ...