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Medical Science Monitor Basic Research


eISSN: 1643-3750

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

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

(Department of Thoracic Surgery, Gansu Provincial Hospital, Lanzhou, Gansu, China (mainland))

Med Sci Monit 2020; 26:e923926

DOI: 10.12659/MSM.923926

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 family members, sporadic ESCC patients, and controls were also assessed for the novel mutation.
RESULTS: The mutation c.426-2A>G was found in 2 affected ESCC sisters and 7 other family members. The splice variant mutation results in exon 5 skipping with a frame shift leading to a premature stop codon in exon 6 and truncation. Novel mutation tracking ruled out single nucleotide polymorphism (SNP) in 100 chromosomes of healthy individuals.
CONCLUSIONS: BRCA2 germline mutation in ESCC patients may play a role in genetic susceptibility to familial ESCC. Genetic analysis of BRCA2 in patients with familial ESCC could provide opportunities for targeted therapies.

Keywords: Carcinoma, Squamous Cell, Genes, BRCA2, Protein Isoforms

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
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