Journal: NPJ breast cancer
This study presents an updated meta-analysis examining the association between rare genetic variants identified through exome sequencing and breast cancer risk.
The analysis includes data from up to 74,127 cases and 748,181 controls, featuring 12,695 cases from the Million Women Study combined with existing summary statistics.
The authors confirmed that protein-truncating variants in established susceptibility genes are linked to increased breast cancer risk. These genes include:
- BRCA2
- BRCA1
- CHEK2
- PALB2
- ATM
- MAP3K1
Notably, BARD1 and ATRIP were identified as significant risk genes at the exome-wide level for the first time.