Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Jennifer N DinesBrian H ShirtsThomas P SlavinTom WalshMary-Claire KingDouglas M FowlerColin C Pritchard

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

In BRCA1 and BRCA2 coldspots, missense variants are very unlikely to be pathogenic. Classification schemes that incorporate coldspots can reduce the number of VUS and mitigate risks from reporting benign variation as VUS.

Keyphrases

breast cancer risk
copy number
intellectual disability
machine learning
deep learning
emergency department
gene expression
dna methylation
risk assessment
autism spectrum disorder
genome wide