Common ERBB2 polymorphisms and risk of breast cancer in a white British population: a case–control study
| Autor: | Douglas F. Easton, Donald M Conroy, Craig Luccarini, Fabienne Lesueur, Mitul Shah, Paul D.P. Pharoah, Nicholas E. Day, Bruce Ponder, Alison M. Dunning, Patrick R. Benusiglio |
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| Přispěvatelé: | Easton, Douglas [0000-0003-2444-3247], Dunning, Alison [0000-0001-6651-7166], Pharoah, Paul [0000-0001-8494-732X], Apollo - University of Cambridge Repository |
| Jazyk: | angličtina |
| Rok vydání: | 2005 |
| Předmět: |
Adult
haplotype Genotype Receptor ErbB-2 Population Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide White People Breast cancer breast cancer Risk Factors medicine SNP Humans Genetic Predisposition to Disease education skin and connective tissue diseases ERBB2 Aged Genetics Aged 80 and over education.field_of_study Haplotype Case-control study case–control study Exons single-nucleotide polymorphism Middle Aged medicine.disease Introns Genotype frequency England Haplotypes Case-Control Studies Female Research Article |
| Zdroj: | Breast Cancer Research |
| ISSN: | 1465-542X 1465-5411 |
| Popis: | INTRODUCTION: About two-thirds of the excess familial risk associated with breast cancer is still unaccounted for and may be explained by multiple weakly predisposing alleles. A gene thought to be involved in low-level predisposition to the disease is ERBB2 (HER2). This gene is involved in cell division, differentiation, and apoptosis and is frequently amplified in breast tumours. Its amplification correlates with poor prognosis. Moreover, the coding polymorphism I655V has previously been associated with an increased risk of breast cancer. METHODS: We aimed to determine if common polymorphisms (frequency >or= 5%) in ERBB2 were associated with breast cancer risk in a white British population. Five single-nucleotide polymorphisms (SNPs) were selected for study: SNP 1 near the promoter, SNP 2 in intron 1, SNP 3 in intron 4, SNP 4 in exon 17 (I655V), and SNP 5 in exon 27 (A1170P). We tested their association with breast cancer in a large case-control study (n = 2192 cases and 2257 controls). RESULTS: There were no differences in genotype frequencies between cases and controls for any of the SNPs examined. To investigate the possibility that a common polymorphism not included in our study might be involved in breast cancer predisposition, we also constructed multilocus haplotypes. Our set of SNPs generated all existing (n = 6) common haplotypes and no differences were seen in haplotype frequencies between cases and controls (P = 0.44). CONCLUSIONS: In our population, common ERBB2 polymorphisms are not involved in predisposition to breast cancer. |
| Databáze: | OpenAIRE |
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