Research Papers:

Common, germline genetic variations in the novel tumor suppressor BAP1 and risk of developing different types of cancer

Moubin Lin, Liren Zhang, Michelle A. T. Hildebrandt, Maosheng Huang, Xifeng Wu and Yuanqing Ye _

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Oncotarget. 2017; 8:74936-74946. https://doi.org/10.18632/oncotarget.20465

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Moubin Lin1, Liren Zhang2, Michelle A.T. Hildebrandt2, Maosheng Huang2, Xifeng Wu2 and Yuanqing Ye2

1Department of General Surgery, Yangpu Hospital, Tongji University School of Medicine, Shanghai, People’s Republic of China

2Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

Correspondence to:

Yuanqing Ye, email: [email protected]

Keywords: BAP1, SNP, cancer risk

Received: March 08, 2017     Accepted: July 26, 2017     Published: August 24, 2017


BRCA1 associated protein-1 (BAP1) is a novel tumor suppressor that has recently been shown to be somatically mutated in several cancers. The BAP1 gene also carries rare germline mutations in families with a high incidence of several types of cancers, such as mesothelioma, uveal melanoma, lung adenocarcinoma, melanocytic neoplasms, and renal cell carcinoma. To test the hypothesis that common, germline genetic variants in BAP1 may also contribute to the risk of developing different types of cancer, we genotyped germline single nucleotide polymorphisms (SNPs) for BAP1 in a large population of patients with cancer, including 2,340 with colorectal cancer, 1,436 with bladder cancer, 3,313 with lung cancer, 1,325 with renal cell carcinoma, and 1,162 with esophageal cancer. We identified significant association of rs11708581 (P = 0.0034) and rs390802 (P = 0.015) with risk of renal cell carcinoma and rs12163565 (P = 0.038) with risk of lung cancer. Expression quantitative trait loci analysis in renal cell carcinoma using publicly available data from TCGA showed that the proxy SNPs for rs11708581 and rs390802 were negatively associated with the expression level of BAP1. Our study indicate that common germline genetic variants of BAP1 play a role in mediating the risk of developing renal cell carcinoma and lung cancer.

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