BARD1 deletion in a patient with suspected hereditary colorectal cancer

Nobue Takaiso; Issei Imoto; Akiyo Yoshimura; Akira Ouchi; Koji Komori; Hiroji Iwata; Yasuhiro Shimizu

doi:10.1038/s41439-024-00267-y

BARD1 deletion in a patient with suspected hereditary colorectal cancer

Hum Genome Var. 2024 Mar 15;11(1):11. doi: 10.1038/s41439-024-00267-y.

Authors

Nobue Takaiso^#¹, Issei Imoto^#^{2

3}, Akiyo Yoshimura^{1

4}, Akira Ouchi⁵, Koji Komori⁵, Hiroji Iwata⁴, Yasuhiro Shimizu⁵

Affiliations

¹ Risk Assessment Unit, Aichi Cancer Center Hospital, Nagoya, Japan.
² Risk Assessment Unit, Aichi Cancer Center Hospital, Nagoya, Japan. iimoto@aichi-cc.jp.
³ Aichi Cancer Center Research Institute, Nagoya, Japan. iimoto@aichi-cc.jp.
⁴ Department of Breast Oncology, Aichi Cancer Center Hospital, Nagoya, Japan.
⁵ Department of Gastroenterological Surgery, Aichi Cancer Center Hospital, Nagoya, Japan.

^# Contributed equally.

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.

Abstract

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