Browsing Other ICR Research by author "Torr, Bethany"
Now showing items 1-3 of 3
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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 ...