Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy

Antonio Russo, Mario Falchetti, Piera Rizzolo, Monica Barile, Siranoush Manoukian, Valentina Silvestri, Peterlongo, Navazio, Graziano, Domenico Palli, Laura Ottini, Zanna, Paolo Radice, Montagna, Laura Cortesi, Paolo Peterlongo, Calogero Saieva, Stefania Tommasi, Giovanna Masala, Liliana VarescoAlessandra Viel, D'Amico, Giuseppe Giannini, Simonetta Bianchi

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Abstract

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.
Lingua originaleEnglish
pagine (da-a)861-868
Numero di pagine8
RivistaBreast Cancer Research and Treatment
Volume138
Stato di pubblicazionePublished - 2013

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All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

Cita questo

Russo, A., Falchetti, M., Rizzolo, P., Barile, M., Manoukian, S., Silvestri, V., Peterlongo, Navazio, Graziano, Palli, D., Ottini, L., Zanna, Radice, P., Montagna, Cortesi, L., Peterlongo, P., Saieva, C., Tommasi, S., Masala, G., ... Bianchi, S. (2013). Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy. Breast Cancer Research and Treatment, 138, 861-868.