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)
Alice Garrett, Sophie Allen, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan A. Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Charlie F Rowlands, Terri Patricia McVeigh, Helen Hanson, , J. Williams
The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.
Genetics in Medicine · Oct 24, 2024Peer-reviewedGenetic & Genomic Medicine