SULT1A1gene deletion inBRCA2-associated male breast cancer: a link between genes and environmental exposures?

Antonio Russo, Mario Falchetti, Piera Rizzolo, Valentina Silvestri, Anna Sara Navazio, Veronica Graziano, Domenico Palli, Laura Ottini, Ines Zanna, Piera Rizzolo, Calogero Saieva, Stefania Tommasi, Giovanna Masala, Simonetta Bianchi

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6 Citations (Scopus)


SULT1A1, a member of sulfotransferase superfamily, is a drug and hormone metabolizing enzyme involved in the metabolism of a variety of potential mammary carcinogens of endogenous and exogenous origin. Interestingly, the metabolic activity of SULT1A1 can be affected by varia- tions in gene copy number. Male Breast Cancer (MBC) is a rare disease and less investigated disease compared to female BC (FBC). As in FBC, the concurrent effects of genetic risk factors, particularly BRCA2 mutations, increased exposure to estrogens and environmental carcinogens play a relevant role in MBC. By quantitative real-time PCR with TaqMan probes, we investigated the presence of SULT1A1 gene copy number variations (CNVs) in a series of 72 MBCs. SULT1A1 gene deletion was observed in 10 of the 72 MBCs (13.9%). In a multivariate analysis associ- ation between BRCA2 mutation and SULT1A1 gene deletion emerged (p = 0.0005). Based on the evidence that the level of SULT1A1 enzyme activity is correlated with CNV, our data suggest that in male breast tumors SULT1A1 activity may be decreased. Thus, it can be hypothesized that in a proportion of MBCs, particularly in BRCA2-associated MBCs, the level of estrogens and environmental carcinogens exposure might be increased suggesting a link between gene and environmental exposure in the pathogenesis of MBC.
Original languageEnglish
Pages (from-to)605-607
Number of pages3
JournalJournal of Cellular and Molecular Medicine
Publication statusPublished - 2013

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Cell Biology

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