一名疑似遗传性结直肠癌患者的 BARD1 缺失。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2024-03-15 DOI:10.1038/s41439-024-00267-y

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

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摘要

BRCA1 相关环状结构域（BARD1）基因中的畸变种系变异会适度增加患乳腺癌的风险；然而，这些变异与其他肿瘤的潜在联系仍不清楚。在此，我们介绍一例被诊断为乙状结肠腺癌的 43 岁女性患者，她的母系家族成员符合林奇综合征的阿姆斯特丹标准 II。全面的多基因面板检测发现了杂合子 BARD1 第 3 外显子缺失。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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BARD1 deletion in a patient with suspected hereditary colorectal cancer.

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.

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