散发性恶性胸膜间皮瘤病例中BRCA-1相关蛋白1种系突变的患病率
Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.
作者信息
Rusch Andreas, Ziltener Gabriela, Nackaerts Kristiaan, Weder Walter, Stahel Rolf A, Felley-Bosco Emanuela
机构信息
Laboratory of Molecular Oncology, Clinic of Oncology, University Hospital of Zürich, Häldeliweg 4, 8044 Zürich, Switzerland.
KU Leuven, University Hospitals, Department of Pulmonology/Respiratory Oncology, Leuven, Belgium.
出版信息
Lung Cancer. 2015 Jan;87(1):77-9. doi: 10.1016/j.lungcan.2014.10.017. Epub 2014 Nov 6.
OBJECTIVE
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.
MATERIALS AND METHODS
Exonic DNA from peripheral blood leucocytes of 78 MPM patients was screened for germline BAP1 mutation.
RESULTS
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.
CONCLUSIONS
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.
目的
23%的间皮瘤肿瘤标本存在乳腺癌1号相关蛋白1（BAP1）基因的突变，而种系BAP1突变易患恶性胸膜间皮瘤（MPM）。我们的目的是研究散发性MPM患者的种系BAP1突变情况。
材料与方法
对78例MPM患者外周血白细胞的外显子DNA进行种系BAP1突变筛查。
结果
78例患者中有1例在第11外显子出现种系同义突变。在所有其他患者中检测到无任何单核苷酸多态性的野生型序列。
结论
考虑到之前的类似筛查，散发性MPM患者种系BAP1突变的患病率估计约为1%-2%，提示种系BAP1突变在散发性MPM发病机制中作用较小。
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