BARD1 deletion in a patient with suspected hereditary colorectal cancer.

ABSTRACT: Deleterious germline variants in the BRCA1-associated ring domain (BARD1) gene moderately elevate breast cancer risk; however, their potential association with other neoplasms remains unclear. Here, we present the case of a 43-year-old female patient diagnosed with sigmoid colon adenocarcinoma whose maternal family members met the Amsterdam Criteria II for Lynch syndrome. Comprehensive multigene panel testing revealed a heterozygous BARD1 exon 3 deletion.

SUBMITTER: Takaiso N 

PROVIDER: S-EPMC10940602 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature