Identification of a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma: A case report.

Gallbladder carcinoma is a malignant biliary tract tumor which is characterized by poor prognosis. Recent advances in genomic medicine have identified a few novel germline mutations that contribute to the increased risk of gallbladder carcinoma. RAD52 is a crucial human deoxyribonucleic acid (DNA) repair gene involved in maintaining genomic stability and preventing tumor occurrence. A 57-year-old man was hospitalized for space-occupying lesions in the gallbladder. A diagnosis of gallbladder adenocarcinoma was made based on computed tomography, B-ultrasound, blood tests, and postoperative pathology. Next-generation sequencing using a 599-gene panel and Sanger sequencing were performed to validate the mutation in the proband and his family members, respectively. A novel potentially pathogenic heterozygous germline RAD52 missense mutation (c.276T > A: p.N92K) was identified in the patient. Sanger sequencing revealed that this variation was not observed in unaffected family members. We identified a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma. Our results added to the current body of knowledge. It also provides new insights into genetic counseling and targeted therapeutic strategies for patients with gallbladder carcinoma. Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

Citation

Wenhu Zhao, Yongjiu Dai, Lei Yue, Jian Gu, Erhong Meng, Dongliang Wang, Siyao Liu, Xinyin Han, Xintong Wang, Guojun Li, Xinzheng Dai. Identification of a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma: A case report. Medicine. 2021 May 14;100(19):e25957

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PMID: 34106670

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