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BARD1 deletion in a patient with suspected hereditary colorectal cancer

Authors :
Nobue Takaiso
Issei Imoto
Akiyo Yoshimura
Akira Ouchi
Koji Komori
Hiroji Iwata
Yasuhiro Shimizu
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.

Subjects

Subjects :
Genetics
QH426-470
Life
QH501-531

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