Browsing Other ICR Research by author "Turnbull, Clare"
Now showing items 1-20 of 33
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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 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 ... -
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 ... -
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 ... -
Effect of COVID-19 on colorectal cancer care in England.
Turnbull, C (ELSEVIER INC, 2021-02-11) -
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 ... -
General anaesthetic and airway management practice for obstetric surgery in England: a prospective, multicentre observational study.
Odor, PM; Bampoe, S; Moonesinghe, SR; Andrade, J; Pandit, JJ; et al. (WILEY, 2020-09-21)There are no current descriptions of general anaesthesia characteristics for obstetric surgery, despite recent changes to patient baseline characteristics and airway management guidelines. This analysis of data from the ... -
Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug Response.
Zhang, P; Kitchen-Smith, I; Xiong, L; Stracquadanio, G; Brown, K; et al. (AMER ASSOC CANCER RESEARCH, 2021-04-01)Insights into oncogenesis derived from cancer susceptibility loci (SNP) hold the potential to facilitate better cancer management and treatment through precision oncology. However, therapeutic insights have thus far been ... -
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
Kuzbari, Z; Bandlamudi, C; Loveday, C; Garrett, A; Mehine, M; et al. (ELSEVIER, 2023-03-01)BACKGROUND: The European Society for Medical Oncology Precision Medicine Working Group (ESMO PMWG) was reconvened to update its 2018/19 recommendations on follow-up of putative germline variants detected on tumour-only ... -
Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.
Mandelker, D; Donoghue, M; Talukdar, S; Bandlamudi, C; Srinivasan, P; et al. (OXFORD UNIV PRESS, 2019-08-01)It is increasingly common in oncology practice to perform tumour sequencing using large cancer panels. For pathogenic sequence variants in cancer susceptibility genes identified on tumour-only sequencing, it is often unclear ... -
How to build an effective research network: lessons from two decades of the GARNet plant science community.
Parry, G; Benitez-Alfonso, Y; Gibbs, DJ; Grant, M; Harper, A; et al. (OXFORD UNIV PRESS, 2020-12-31)Successful collaborative research is dependent on excellent ideas and innovative experimental approaches, as well as the provision of appropriate support networks. Collaboration requires venues, infrastructures, training ... -
Identification of 22 susceptibility loci associated with testicular germ cell tumors.
Pluta, J; Pyle, LC; Nead, KT; Wilf, R; Li, M; et al. (NATURE PORTFOLIO, 2021-07-23)Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with and without ... -
Incidence of accidental awareness during general anaesthesia in obstetrics: a multicentre, prospective cohort study.
Odor, PM; Bampoe, S; Lucas, DN; Moonesinghe, SR; Andrade, J; et al. (WILEY, 2021-01-12)General anaesthesia for obstetric surgery has distinct characteristics that may contribute towards a higher risk of accidental awareness during general anaesthesia. The primary aim of this study was to investigate the ...