Back to Search
Start Over
BARD1 deletion in a patient with suspected hereditary colorectal cancer
- Source :
- Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
- Publication Year :
- 2024
- Publisher :
- Nature Publishing Group, 2024.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 2054345X
- Volume :
- 11
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Human Genome Variation
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.0271519ac6a14e3db175fe4a94c023d8
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41439-024-00267-y