Article

Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

2024-07-19

Abstract excerpt

<h4>Purpose</h4> Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene (CSG) as though having equivalent penetrance, despite increasing evidence of inter-variant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants where reduced penetrance is suspected may be classified in...

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Literature Corpus work: 28c689d4-cf3c-5607-8d82-943d56e89bb5
DOI: 10.1101/2024.07.19.24310706

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