Changes in classification of genetic variants in BRCA1 and BRCA2.

Karin KastPauline WimbergerNorbert Arnold

Published in: Archives of gynecology and obstetrics (2018)

All variants with a change in classification in our cohort were down-staged towards no clinical significance by a panel of experts of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Prevention in families with Class 3 variants should be based on pedigree based risks and should not be guided by the presence of a VUS.

Keyphrases

deep learning
machine learning
copy number
breast cancer risk
human health
risk assessment
dna methylation
high resolution