CYP19 (TTTA)n polymorphism and breast cancer risk in Brazilian women

Abstract A prolonged or increased exposure to endogenous estrogens associated with genetic factors are considered to be the main risk factors for breast cancer. The CYP19 gene encodes the enzyme aromatase, which catalyzes the conversion of androgens into estrogens. CYP19 alleles containing different numbers of tetranucleotide TTTA repeats in intron 4 have been associated with increased breast cancer risk. In this study we investigated, for the first time, the frequency of CYP19 (TTTA) n alleles in a South American population ( n  = 475) and analyzed the risk for developing breast cancer in a case-control study comprising 135 cases and 270 age-matched controls. It is shown that Brazilians possess not only the alleles identified in all the other populations studied so far (alleles containing from 7 to 13 TTTA repeats), but also the (TTTA) 6 allele, that had never been described before. The (TTTA) 10 allele was three times more frequent in cases when compared to controls and presented a significant positive association ( p  = 0.048) with breast cancer development in Brazilians.