Browsing ICR Divisions 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 ... -
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; et al. (ELSEVIER SCIENCE INC, 2022-01-01)PURPOSE: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain. ...