A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.

Ciyu YangOzge Ceyhan-BirsoyDiana MandelkerSowmya JairamAmanda CatchingsEileen M O'ReillyMichael F WalshZarina Yelskaya

Published in: Breast cancer research and treatment (2018)

Our results indicate that the PALB2 c.18G>T (p.Gly6=) variant is likely pathogenic. This study provided important laboratory evidence for classification of this variant and guided improved patient management.

Keyphrases

machine learning
deep learning
case report
dna repair
oxidative stress