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Article

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.

Journal of medical genetics - 1 May 2021

Garrett Alice, Durkie Miranda, Callaway Alison, Burghel George J, Robinson Rachel, Drummond James, Torr Bethany, Cubuk Cankut, Berry Ian R, Wallace Andrew J, Ellard Sian, Eccles Diana M, Tischkowitz Marc, Hanson Helen, Turnbull Clare

Abstract excerpt

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 has been much improved by the American College of Medical Genetics (ACMG) 2015 framework for variant classification, UK Association for Clinical Genomic Science (UK-ACGS) Best Practice Guidelines...

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Identifiers

PMID: 33208383
DOI: 10.1136/jmedgenet-2020-107248
PMCID: PMC8086256

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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