Browsing ICR Divisions by author "Turnbull, Clare"
Now showing items 1-20 of 73
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators,; Smedley, D; Smith, KR; Martin, A; Thomas, EA; et al. (MASSACHUSETTS MEDICAL SOC, 2021-11-11)BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care ... -
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 ... -
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
Escala-Garcia, M; Abraham, J; Andrulis, IL; Anton-Culver, H; Arndt, V; et al. (NATURE PORTFOLIO, 2020-01-16)Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential ... -
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 ... -
Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.
Grasso, C; Popovic, M; Isaevska, E; Lazzarato, F; Fiano, V; et al. (AMER ASSOC CANCER RESEARCH, 2022-09-02)BACKGROUND: Testicular germ cell tumors (TGCT), histologically classified as seminomas and nonseminomas, are believed to arise from primordial gonocytes, with the maturation process blocked when they are subjected to DNA ... -
BRCA-DIRECT: A randomised UK study evaluating a digital pathway for germline genetic testing and non-inferiority of digitally-delivered information in women with breast cancer
Torr, B; Choi, S; Jones, C; Allen, S; Kavanaugh, G; et al. (ELSEVIER, 2022-05-01) -
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett, A; Callaway, A; Durkie, M; Cubuk, C; Alikian, M; et al. (BMJ PUBLISHING GROUP, 2020-12-01)Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical ... -
Cell-surface receptors enable perception of extracellular cytokinins.
Antoniadi, I; Novák, O; Gelová, Z; Johnson, A; Plíhal, O; et al. (NATURE PUBLISHING GROUP, 2020-08-27)Cytokinins are mobile multifunctional plant hormones with roles in development and stress resilience. Although their Histidine Kinase receptors are substantially localised to the endoplasmic reticulum, cellular sites of ... -
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk, C; Garrett, A; Choi, S; King, L; Loveday, C; et al. (2021-07-06)Purpose Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or ... -
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk, C; Garrett, A; Choi, S; King, L; Loveday, C; et al. (ELSEVIER SCIENCE INC, 2021-07-06)PURPOSE: Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework affords supporting evidence toward pathogenicity or ... -
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol, P; Barberis, M; Beer, P; Friedman, E; Piulats, JM; et al. (ELSEVIER SCI LTD, 2021-02-10)BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing ... -
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' ... -
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett, A; Durkie, M; Callaway, A; Burghel, GJ; Robinson, R; et al. (BMJ PUBLISHING GROUP, 2021-05-01)Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence ... -
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data.
Romagnoni, A; Jégou, S; Van Steen, K; Wainrib, G; Hugot, J-P; et al. (NATURE PORTFOLIO, 2019-07-17)Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The ... -
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 COVID-19 on colorectal cancer care in England.
Turnbull, C (ELSEVIER INC, 2021-02-11) -
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 ... -
Estimated impact of the COVID-19 pandemic on cancer services and excess 1-year mortality in people with cancer and multimorbidity: near real-time data on cancer care, cancer deaths and a population-based cohort study.
Lai, AG; Pasea, L; Banerjee, A; Hall, G; Denaxas, S; et al. (BMJ PUBLISHING GROUP, 2020-11-17)OBJECTIVES: To estimate the impact of the COVID-19 pandemic on cancer care services and overall (direct and indirect) excess deaths in people with cancer. METHODS: We employed near real-time weekly data on cancer care to ...