Characterization of a Genetic Variant in <i>BARD1</i> in Subjects Undergoing Germline Testing for Hereditary Tumors.

ABSTRACT: Hereditary breast and ovarian cancer (HBOC) syndrome accounts for 5-10% of all breast and ovarian cancers, with BRCA1 and BRCA2 pathogenic variants being the most common genetic alterations. However, additional genes such as BARD1, whose protein product interacts with BRCA1 via its N-terminal RING domain, have been implicated as low-penetrance contributors to cancer risk. This study aimed to investigate the frequency and distribution of the BARD1 variant c.1518_1519delinsCA (p.Val507Met) in a cohort of 920 patients undergoing genetic testing for hereditary cancer predisposition. Next Generation Sequencing (NGS) was performed using a 28-gene panel, and allelic frequencies of BARD1 were analyzed. Among 920 patients, 159 (17.28%) were pure heterozygous for t

SUBMITTER: Marino E 

PROVIDER: S-EPMC12650687 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature