Browsing ICR Divisions by author "Turnbull, Clare"
Now showing items 21-40 of 73
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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 ... -
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 evolution and chemoresistance in germ-cell tumours.
Taylor-Weiner, A; Zack, T; O'Donnell, E; Guerriero, JL; Bernard, B; et al. (NATURE PUBLISHING GROUP, 2016-11-30)Germ-cell tumours (GCTs) are derived from germ cells and occur most frequently in the testes. GCTs are histologically heterogeneous and distinctly curable with chemotherapy. Gains of chromosome arm 12p and aneuploidy are ... -
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 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 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 ... -
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 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 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 ... -
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) ... -
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 ... -
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 ...