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Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China.

Medical science monitor : international medical journal of experimental and clinical research - 24 Jun 2020

Liang Zhong, Hu Weidong, Li Shuping, Wei Zhenhong, Zhu Zijiang

Abstract excerpt

BACKGROUND Germline mutations of BRCA2 have been reported in various malignancies. We investigated BRCA2 germline mutations in familial clusters with esophageal squamous cell carcinoma (ESCC). MATERIAL AND METHODS We screened the DNA of familial ESCC patients for BRCA2 germline mutations with whole gene sequencing. Multiple BRCA2 mutations including one novel splice variant, c.426-2A>G were identified. Other...

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Identifiers

PMID: 32579544
DOI: 10.12659/MSM.923926
PMCID: PMC7331485

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