Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.

ABSTRACT: Breast cancer is the most prevalent malignancy among women worldwide and hereditary breast cancer (HBC) accounts for about 5−10% of the cases. Today, the most recurrent genes known are BRCA1 and BRCA2, accounting for around 25% of familial cases. Although thousands of loss-of-function variants in more than twenty predisposing genes have been found, the majority of familial cases of HBC remain unexplained. The aim of this study was to identify new predisposing genes for HBC in three non-BRCA families with autosomal dominant inheritance pattern using whole-exome sequencing and functional prediction tools. No pathogenic variants in known hereditary cancer-related genes could explain the breast cancer susceptibility in these families. Among 2122 exonic variants with maximum minor allele freque

SUBMITTER: Liu Y 

PROVIDER: S-EPMC9138793 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature