Ontology highlight
ABSTRACT:
SUBMITTER: Glentis S
PROVIDER: S-EPMC6813924 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Glentis Stavros S Dimopoulos Alexandros C AC Rouskas Konstantinos K Ntritsos George G Evangelou Evangelos E Narod Steven A SA Mes-Masson Anne-Marie AM Foulkes William D WD Rivera Barbara B Tonin Patricia N PN Ragoussis Jiannis J Dimas Antigone S AS
Frontiers in genetics 20191018
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 se ...[more]