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

Medicine
Wenhu ZhaoXinzheng Dai

Abstract

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 fo...Continue Reading

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Software Mentioned

MutationTaster
SIFT
- 2 ( Polymorphism Phenotyping
SIFT ( Sorting Intolerant Tolerant
PolyPhen

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