• Wenhu Zhao, Yongjiu Dai, Lei Yue, Jian Gu, Erhong Meng, Dongliang Wang, Siyao Liu, Xinyin Han, Xintong Wang, Guojun Li, and Xinzheng Dai.
• Hepatobiliary Center, the First Affiliated Hospital of Nanjing Medical University, Nanjing.
• Medicine (Baltimore). 2021 May 14; 100 (19): e25957.

RationaleGallbladder 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.Patient ConcernsA 57-year-old man was hospitalized for space-occupying lesions in the gallbladder.DiagnosisA diagnosis of gallbladder adenocarcinoma was made based on computed tomography, B-ultrasound, blood tests, and postoperative pathology.InterventionsNext-generation sequencing using a 599-gene panel and Sanger sequencing were performed to validate the mutation in the proband and his family members, respectively.OutcomesA 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.LessonsWe 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.

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