Browsing Other ICR Research by author "Torr, Bethany"
Now showing items 1-4 of 4
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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 practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
Lalloo, F; Kulkarni, A; Chau, C; Nielsen, M; Sheaff, M; et al. (SPRINGERNATURE, 2023-11-01)BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant ... -
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 ... -
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 ...