Open AccessSULT 1A1 gene deletion in BRCA 2 ‐associated male breast cancer: a link between genes and environmental exposures?
Author(s) -
Palli Domenico,
Rizzolo Piera,
Zanna Ines,
Silvestri Valentina,
Saieva Calogero,
Falchetti Mario,
Navazio Anna Sara,
Graziano Veronica,
Masala Giovanna,
Bianchi Simonetta,
Russo Antonio,
Tommasi Stefania,
Ottini Laura
Publication year - 2013
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.12043
Subject(s) - biology , gene , carcinogen , copy number variation , genetics , breast cancer , taqman , mutation , cancer , cancer research , real time polymerase chain reaction , genome
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.