Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma
| Autor: | Li Xu, Qingyi Wei, Erich M. Sturgis, Guojun Li, Phi C. Doan |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Oncology
Cancer Research medicine.medical_specialty Genes BRCA1 Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Article Risk Factors Internal medicine Genotype medicine Genetic predisposition Humans Genetic Predisposition to Disease Family history Haplotype Case-control study Middle Aged Salivary Gland Neoplasms medicine.disease Minor allele frequency Salivary gland cancer Case-Control Studies Cancer research Oral Surgery |
| Zdroj: | Oral Oncology. 48:842-847 |
| ISSN: | 1368-8375 |
| Popis: | Summary 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. |
| Databáze: | OpenAIRE |
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