Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy
| Autor: | Antonio Russo, Giovanna Masala, Paolo Radice, Stefania Tommasi, Domenico Palli, Piera Rizzolo, Veronica Graziano, Anna Sara Navazio, Laura Ottini, Alessandra Viel, Mario Falchetti, Cristina D'Amico, Giuseppe Giannini, Laura Cortesi, M. Barile, M. Montagna, Siranoush Manoukian, Simonetta Bianchi, Paolo Peterlongo, Ines Zanna, Valentina Silvestri, L. Varesco, Calogero Saieva |
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| Přispěvatelé: | Ottini, L, Silvestri, V, Saieva, C, Rizzolo, P, Zanna, I, Falchetti, M, Masala, G, Navazio, AS, Graziano, V, Bianchi, S, Manoukian, S, Barile, M, Peterlongo, P, D'Amico, C, Veresco, L, Tommasi, S, Russo, A, Giannini, G, Cortesi, L, Viel, A, Montagna, M, Radice, P, Palli, D |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Oncology
Adult Male Cancer Research medicine.medical_specialty Multivariate analysis Settore MED/06 - Oncologia Medica Clinicopathological characteristic BRCA1/2 Clinicopathological characteristics ER/PR status Low-penetrance breast cancer alleles Male breast cancer SNPs Single-nucleotide polymorphism Polymorphism Single Nucleotide ER/PR statu Breast Neoplasms Male Breast cancer Internal medicine Genotype medicine Humans Genetic Predisposition to Disease Allele Receptor Fibroblast Growth Factor Type 2 Low-penetrance breast cancer allele Alleles Aged Aged 80 and over business.industry Estrogen Receptor alpha High Mobility Group Proteins clinicopathological characteristics Middle Aged medicine.disease Penetrance er/pr status TOX3 Italy Receptors Estrogen Case-Control Studies Multivariate Analysis Trans-Activators low-penetrance breast cancer alleles business Apoptosis Regulatory Proteins Receptors Progesterone male breast cancer brca1/2 snps |
| Popis: | It is well-known that male breast cancer (MBC) susceptibility is mainly due to high-penetrance BRCA1/2 mutations. Here, we investigated whether common low-penetrance breast cancer (BC) susceptibility alleles may influence MBC risk in Italian population and whether variant alleles may be associated with specific clinicopathological features of MBCs. In the frame of the Italian Multicenter Study on MBC, we genotyped 413 MBCs and 745 age-matched male controls at 9 SNPs annotating known BC susceptibility loci. By multivariate logistic regression models, we found a significant increased MBC risk for 3 SNPs, in particular, with codominant models, for rs2046210/ESR1 (OR = 1.71; 95 % CI: 1.43–2.05; p = 0.0001), rs3803662/TOX3 (OR = 1.59; 95 % CI: 1.32–1.92; p = 0.0001), and rs2981582/FGFR2 (OR = 1.26; 95 % CI: 1.05–1.50; p = 0.013). Furthermore, we showed that the prevalence of the risk genotypes of ESR1 tended to be higher in ER− tumors (p = 0.062). In a case–case multivariate analysis, a statistically significant association between ESR1 and ER− tumors was found (OR = 1.88; 95 % CI: 1.03–3.49; p = 0.039). Overall, our data, based on a large and well-characterized MBC series, support the hypothesis that common low-penetrance BC susceptibility alleles play a role in MBC susceptibility and, interestingly, indicate that ESR1 is associated with a distinct tumor subtype defined by ER-negative status. |
| Databáze: | OpenAIRE |
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