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Abstract
Caveolin-1(CAV-1) was demonstrated to be a tumor suppressor gene and be implicated in the development of breast cancer (BC). Numerous potentially functional polymorphisms in CAV-1 have been identified, but their effects on BC were not clear. This case-control study aims to evaluate the relationship between CAV-1 polymorphisms and BC risk. 560 BC patients and 583 healthy controls were enrolled in the present study, all from Chinese Han population. We detected 3 single nucleotide polymorphisms (rs3807987, rs1997623, and rs7804372) in CAV-1 using the Sequenom MassARRAY method. The association between CAV-1genotypes and BC risk was assessed in six genetic models by calculating the odds ratio (OR) and 95% confidence intervals (95% CIs) with χ2-test. The CAV-1 rs3807987 polymorphism was observed to increase the risk of BC And the A allele of rs3807987 relates to a larger tumor size (≥2cm) and lower incidence of PR-positive BC while the AA genotype of rs7804372 associates with a higher ER and Her-2 positive rate among BC patients. In addition, Ars1997623Grs3807987Trs7804372 haplotype was linked to a decreased risk of BC (OR =0.64, 95%CI=0.44-0.93), whereas Crs1997623Ars3807987Trs7804372 haplotype was related to an increased BC risk (OR =1.74, 95%CI=1.04-2.92). Our study suggests that CAV-1 rs3807987 can increase the BC risk among Chinese Han women. And the rs3807987 and rs7804372 in CAV-1 may serve as predictors for prognosis of BC.
Highlights
Breast cancer (BC) is the most common cancer type and the main cause of cancer death in women all over the world [1]
Since genetic factors play a crucial role in human breast carcinogenesis, polymorphisms in genes that encode proteins involved in the breast cancer (BC) development can act as biomarkers and may even turn out to be useful targets for particular therapeutic approaches to BC [3]
A number of studies have explored the associations between CAV-1 genetic polymorphisms and the risk of various cancer types including hepatocellular carcinoma [13], gastric cancer [14], esophageal cancer [18], colorectal cancer [19], renal cell carcinoma [20], prostate cancer [15], bladder cancer [21] and leukemia [22]
Summary
Breast cancer (BC) is the most common cancer type and the main cause of cancer death in women all over the world [1]. In China, it ranks the top of all the female cancers. In 2012, the morbidity and mortality of BC in China is about 0.221‰ and 0.054‰ respectively [2]. Multiple factors including hereditary and environmental factors are associated with its carcinogenesis. Genetic factors are believed to play a vital role in the development of BC. About 5-10% of all the BC cases are hereditary, caused by mutations in susceptibility genes [3]
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