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The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population

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Tumor Biology

Abstract

BRCA1 is a crucial tumor suppressor which plays an essential role in maintaining genomic stability and integrity. Accumulated evidences demonstrated that there is frequent chromosome loss of BRCA1 or significant BRCA1 down-regulation via hypermethylation of its promoter in human gastric cancer specimens, highlighting the tumor-suppressing function of BRCA1 in gastric carcinogenesis. There is an rs799917 T>C single nucleotide polymorphism (SNP) located in the BRCA1 coding sequence (CDS). This SNP can disturb the interaction between BRCA1 mRNA and miR-638 and result in significantly decreased BRCA1 expression among carriers of rs799917C allele. In this study, we investigated the association between rs799917 and gastric cancer risk in a Chinese Han population using a case–control design. A total of 660 gastric cancer patients and 800 controls were enrolled and genotyped. Odds ratios (ORs) and 95 % confidence intervals (CIs) were calculated by logistic regression. We found that individuals with the rs799917 CT genotype was significantly associated with gastric cancer risk (OR = 1.81, 95 % CI = 1.28–2.56; P = 0.001). Individuals having the rs799917 CC genotype had an OR of 1.40 (95 % CI = 1.17–1.68; P = 2.2 × 10−4) for developing gastric cancer, compared with individual having the rs799917 TT genotype. However, stratified analyses did not find any evident gene–covariates interaction. Our results for the first time indicate that the functional BRCA1 rs799917 polymorphism contributes to gastric cancer susceptibility.

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Authors and Affiliations

  1. Department of Vascular Surgery, QianFoShan Hospital, Shandong University, Jinan, Shandong Province, China

    Kun Wang

  2. Clinical Laboratory, Heze Maternal and Child Hospital, Heze, Shandong Province, China

    Longfang Xu

  3. Clinical Laboratory, The 4th People’s Hospital of Jinan City, Jinan, Shandong Province, China

    Lin Pan

  4. Department of Hepatobiliary Surgery, Qilu Hospital, Shandong University, Jinan, 250012, Shandong Province, China

    Kesen Xu

  5. Clinical Laboratory, The Civil Hospital of Heze, Heze, 274000, Shandong Province, China

    Guixia Li

Authors
  1. Kun Wang
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  2. Longfang Xu
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  3. Lin Pan
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  4. Kesen Xu
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  5. Guixia Li
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Corresponding authors

Correspondence to Kesen Xu or Guixia Li.

Additional information

Kun Wang and Longfang Xu contributed equally to this work.

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Wang, K., Xu, L., Pan, L. et al. The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population. Tumor Biol. 36, 393–397 (2015). https://doi.org/10.1007/s13277-014-2655-9

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  • DOI: https://doi.org/10.1007/s13277-014-2655-9

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