Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

Christian Peter KratzDmitrii SmirnovRobert AutryNatalie JägerSebastian M WaszakAnika GroßhennigRiccardo BeruttiMareike WendorffPierre HainautStefan M PfisterHolger Prokisch Tim RippergerDavid Malkin

Published in: Journal of the National Cancer Institute (2022)

These data suggest that heterozygous PVs in BRCA1 and 2 and mismatch repair genes contribute with reduced penetrance to cancer risk in children and adolescents. No changes to predictive genetic testing and surveillance recommendations are required.

Keyphrases

copy number
early onset
genome wide
breast cancer risk
genome wide identification
papillary thyroid
public health
big data
dna methylation
genome wide analysis
transcription factor
artificial intelligence
data analysis