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).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2025
Garrett Alice, Allen Sophie, Durkie Miranda, Burghel George J, Robinson Rachel, Callaway Alison, Field Joanne, Frugtniet Bethan, Palmer-Smith Sheila, Grant Jonathan, Pagan Judith, McDevitt Trudi, Rowlands Charlie F, McVeigh Terri, Hanson Helen, Turnbull Clare
Abstract excerpt
PURPOSE: Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants in which reduced penetrance is suspected may be classified...
Read the complete abstract on PubMedTopics
- Humans
- Penetrance
- Genetic Predisposition to Disease
- Neoplasms