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PMID: 25468148 已发表 · ppublish 英语

Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.

Lung cancer (Amsterdam, Netherlands) ·第 87 卷 ·第 1 期 ·2015-08-20

Rusch Andreas, Ziltener Gabriela, Nackaerts Kristiaan, Weder Walter, Stahel Rolf A, Felley-Bosco Emanuela

摘要

23% of mesothelioma tumor specimens have a mutation in the BRCA1-associated protein 1 (BAP1) gene and germline BAP1 mutations predispose to malignant pleural mesothelioma (MPM). Our aim was to investigate germline BAP1 mutations in sporadic MPM patients.,Exonic DNA from peripheral blood leucocytes of 78 MPM patients was screened for germline BAP1 mutation.,One out of 78 patients showed a germline synonymous mutation in exon 11. In all other patients wild-type sequence without any single-nucleotide polymorphisms was detected.,Taking into account previous similar screenings, the prevalence of germline BAP1 mutations in sporadic MPM patients can be estimated around 1-2%, suggesting a minor role of germline BAP1 mutation in the pathogenesis of sporadic MPM.

关键词
BAP1 BAP1 cancer syndrome Germline mutation Germline mutation screening Mesothelioma Tumor predisposition syndrome
文献信息
期刊
Lung cancer (Amsterdam, Netherlands)
期刊简称
Lung Cancer
发表日期
2015-08-20
收录日期
2014-12-19
更新日期
2016-11-25
语言
英语
国家/地区
Ireland
NLM ID
8800805
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