Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma

Abstract

Polymorphic BRCA1 is a vital tumor suppressor gene within the DNA double-strand break repair pathways, but its association with salivary gland carcinoma (SGC) has yet to be investigated. In a case-control study of 156 SGC patients and 511 controls, we used unconditional logistical regression analyses to investigate the association between SGC risk and seven common functional single-nucleotide polymorphisms (A1988G, A31875G, C33420T, A33921G, A34356G, T43893C and A55298G) in BRCA1. T43893C TC/CC genotype was associated with a reduction of SGC risk (adjusted odds ratio=0.55, 95% CI: 0.38-0.80, Bonferroni-adjusted p=0.011), which was more pronounced in women, non-Hispanic whites, and individuals with a family history of cancer in first-degree relatives. The interaction between T43893C and family history of cancer was significant (p=0.009). The GATGGCG and AACAACA haplotypes, both of which carry the T43893C minor allele, were also associated with reduced SGC risk. Our results suggest that polymorphic BRCA1, particularly T43893C polymorphism, may protect against SGC.