Browsing Other ICR Research by author "Pronin, Lucy Wai Yee"
Now showing items 1-5 of 5
-
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 ... -
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study.
Allen, I; Hassan, H; Joko-Fru, WY; Huntley, C; Loong, L; et al. (ELSEVIER, 2024-05-01)BACKGROUND: Second primary cancers (SPCs) after breast cancer (BC) present an increasing public health burden, with little existing research on socio-demographic, tumour, and treatment effects. We addressed this in the ... -
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 ... -
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 ...