Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Hongyan LiHolly LaDucaTina PesaranElizabeth C ChaoJill S DolinskyMichael ParsonsAmanda B SpurdleEric C PolleyHermela ShimelisSteven N HartChunling HuFergus J CouchDavid E Goldgar

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

The evidence presented here supports the use of personal and family history from MGPT in the classification of VUS and will be integrated into ongoing efforts to provide large-scale multifactorial classification.

Keyphrases

deep learning
machine learning
papillary thyroid
squamous cell
lymph node metastasis
copy number
gene expression
quality improvement