Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.

Chunling HuLisa R SussweinMaegan E RobertsHana YangMegan L MarshallSusan HirakiWindy Berkofsky-FesslerSounak Gupta Wei ShenCarolyn A DunnHuaizhi HuangJie Na Susan M Domchek Siddhartha Yadav Alvaro N A MonteiroEric C PolleySteven N HartKathleen S HruskaFergus J Couch

Published in: Clinical cancer research : an official journal of the American Association for Cancer Research (2022)

Incorporation of HDR functional analysis into an ACMG/AMP framework model substantially improves BRCA2 VUS re-classification and provides an important tool for determining the clinical relevance of individual BRCA2 VUS.

Keyphrases

machine learning
deep learning
protein kinase
breast cancer risk
copy number
gene expression
genome wide