High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.

Irene R RainvilleShanell HatcherEric RosenthalKatie LarsonRyan BernhiselStephanie MeekHeidi GorringeErin MundtSusan Manley

Published in: Breast cancer research and treatment (2020)

These data suggest that biallelic CHEK2 PV carriers have a higher risk for breast cancer, are more likely to be diagnosed younger, and to have multiple primary breast cancers compared to monoallelic carriers. Biallelic carriers also appear to have a higher risk of cancer overall. Therefore, more aggressive management may be appropriate for women with biallelic PVs in CHEK2 compared with current recommendations for monoallelic carriers.

Keyphrases

intellectual disability
autism spectrum disorder
papillary thyroid
childhood cancer
electronic health record
copy number
big data
gene expression
machine learning
dna methylation
artificial intelligence