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

Journal Article (Journal Article)

OBJECTIVES: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: Our results suggest that polymorphic BRCA1, particularly T43893C polymorphism, may protect against SGC.

Full Text

Duke Authors

Cited Authors

  • Xu, L; Doan, PC; Wei, Q; Li, G; Sturgis, EM

Published Date

  • September 2012

Published In

Volume / Issue

  • 48 / 9

Start / End Page

  • 842 - 847

PubMed ID

  • 22503699

Pubmed Central ID

  • PMC3408797

Electronic International Standard Serial Number (EISSN)

  • 1879-0593

Digital Object Identifier (DOI)

  • 10.1016/j.oraloncology.2012.03.012


  • eng

Conference Location

  • England