Open AccessIdentification of a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma
Author(s) -
Wenhu Zhao,
Yongjiu Dai,
Lei Yue,
Jian Gu,
Erhong Meng,
Dongliang Wang,
Siyao Liu,
Xinyin Han,
Xintong Wang,
Guojun Li,
Xinzheng Dai
Publication year - 2021
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000025957
Subject(s) - missense mutation , medicine , sanger sequencing , gallbladder , germline mutation , proband , germline , carcinoma , mutation , gallbladder cancer , genetics , pathology , gene , biology
Rationale: 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. Patient concerns: A 57-year-old man was hospitalized for space-occupying lesions in the gallbladder. Diagnosis: A diagnosis of gallbladder adenocarcinoma was made based on computed tomography, B-ultrasound, blood tests, and postoperative pathology. Interventions: 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. Outcomes: 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. Lessons: 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.