SULT1A1 gene deletion in BRCA2-associated male breast cancer: A link between genes and environmental exposures?

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

Research output: Contribution to journalArticlepeer-review


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 variations 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 association 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
Issue number5
Publication statusPublished - May 2013


  • BRCA2
  • Copy number variations (CNVs)
  • Male breast cancer
  • SULT1A1

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Medicine


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