Browsing Other ICR Research by author "Turnbull, Clare"
Now showing items 21-33 of 33
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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) ... -
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 ... -
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) -
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 ... -
Testicular cancer in 2017: Sequencing advances understanding.
Murray, MJ; Turnbull, C (NATURE PORTFOLIO, 2018-02-01) -
The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource.
Huntley, C; Loong, L; Mallinson, C; Bethell, R; Rahman, T; et al. (ELSEVIER, 2024-03-01)BACKGROUND: Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of clinical and genomic data has restricted ... -
The Noninvasive Ventilation Outcomes (NIVO) score: prediction of in-hospital mortality in exacerbations of COPD requiring assisted ventilation.
Hartley, T; Lane, ND; Steer, J; Elliott, MW; Sovani, MP; et al. (EUROPEAN RESPIRATORY SOC JOURNALS LTD, 2021-11-01)INTRODUCTION: Acute exacerbations of COPD (AECOPD) complicated by acute (acidaemic) hypercapnic respiratory failure (AHRF) requiring ventilation are common. When applied appropriately, ventilation substantially reduces ... -
Transcriptome and phytohormone changes associated with ethylene-induced onion bulb dormancy.
Alamar, MC; Anastasiadi, M; Lopez-Cobollo, R; Bennett, MH; Thompson, AJ; et al. (ELSEVIER, 2020-10-01)Control of dormancy and sprouting in onion bulbs is commercially important for postharvest management. Although ethylene application is sometimes used to extend dormancy, the underlying mechanisms regulating dormancy ... -
Tumor-only sequencing for oncology management: Germline-focused analysis and implications.
George, A; Turnbull, C (WILEY, 2020-12-15)As patients are now routinely having large somatic genomic testing panels undertaken as part of routine management, there is the rising likelihood of uncovering the presence of a germline pathogenic variant. This may be ... -
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson, H; Kulkarni, A; Loong, L; Kavanaugh, G; Torr, B; et al. (BMJ PUBLISHING GROUP, 2022-11-21)Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there ...