Browsing ICR Divisions by author "Allen, Sophie"
Now showing items 1-6 of 6
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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 ... -
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 ... -
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 ... -
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 ...