Exome Sequencing in <i>BRCA1-</i> and <i>BRCA2</i>-Negative Greek Families Identifies <i>MDM1</i> and <i>NBEAL1</i> as Candidate Risk Genes for Hereditary Breast Cancer.

ABSTRACT: Approximately 10% of breast cancer (BC) cases are hereditary BC (HBC), with HBC most commonly encountered in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Although thousands of loss-of-function (LoF) alleles in over 20 genes have been associated with HBC susceptibility, the genetic etiology of approximately 50% of cases remains unexplained, even when polygenic risk models are considered. We focused on one of the least-studied European populations and applied whole-exome sequencing (WES) to 52 individuals from 17 Greek HBOC families, in which at least one patient was negative for known HBC risk variants. Initial screening revealed pathogenic variants in known cancer genes, including BARD1:p.Trp91* detected in a cancer-free individual, and MEN1:p.Glu260Ly

SUBMITTER: Glentis S 

PROVIDER: S-EPMC6813924 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature