Skip to main content
. 2021 Jun 11;7:76. doi: 10.1038/s41523-021-00279-9

Fig. 1. Breast cancer predisposition gene discovery and validation strategy in the BEACCON study.

Fig. 1

Whole-exome sequencing (WES) was carried out on 150 BC affected cases from 69 high-risk BC families. Based on the data from the WES and DNA repair genes identified through literature review, 1303 candidate genes and 14 previously reported HBOC genes were screened in up to 1990 index non-BRCA1/2 familial BC cases and 1902 controls. One hundred forty-five genes selected from phase 1 and the same 14 HBOC genes are screened in an independent cohort of 3780 index non-BRCA1/2 BC cases and 3839 controls.