title: Analysis of the rs10046 polymorphism of aromatase (CYP19) in premenopausal onset of human breast cancer.
abstract: The CYP19 gene encodes aromatase, an enzyme catalyzing the conversion of androgens to estrogens. Studies analyzing associations between single nucleotide polymorphisms in CYP19 and breast cancer risk have shown inconsistent results. The rs10046 polymorphism is located in the 3' untranslated region of the CYP19 gene, but the influence of this polymorphism on breast cancer risk is unclear. In this study, we investigated the impact of rs10046 SNP on breast cancer risk, age at onset and association with clinical characteristics in an Austrian population of 274 breast cancer patients and 253 controls. The results show that a significantly increased fraction of patients with the TT genotype of rs10046 develop breast cancer under the age of 50 (41.8% of TT patients, compared to 26.6% of C carriers; p = 0.018, Chi-square test). No rs10046 genotypes were significantly associated with increased breast cancer risk or patient characteristics other than age at onset. These results suggest that the rs10046 polymorphism in the CYP19 gene may have an effect on breast cancer susceptibility at an age under 50 in the investigated population.
authors.affiliation: Laboratory for Molecular Cellular Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, A-1090 Vienna, Austria. karin.zins@meduniwien.ac.at.
authors.forename: Karin
authors.initials: K
authors.lastname: Zins
authors.affiliation: Laboratory for Molecular Cellular Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, A-1090 Vienna, Austria. maurice.mogg@gmail.com.
authors.forename: Maurice
authors.initials: M
authors.lastname: Mogg
authors.affiliation: Laboratory for Molecular Cellular Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, A-1090 Vienna, Austria. christian.schneeberger@meduniwien.ac.at.
authors.forename: Christian
authors.initials: C
authors.lastname: Schneeberger
authors.affiliation: Laboratory for Molecular Cellular Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, A-1090 Vienna, Austria. dietmar.abraham@meduniwien.ac.at.
authors.forename: Dietmar
authors.initials: D
authors.lastname: Abraham
authors.affiliation: Laboratory for Molecular Cellular Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, A-1090 Vienna, Austria. martin.schreiber@meduniwien.ac.at.
authors.forename: Martin
authors.initials: M
authors.lastname: Schreiber
mesh_terms: D020413:3' Untranslated Regions; D017668:Age of Onset; D000483:Alleles; D001141:Aromatase / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009367:Neoplasm Staging; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D017697:Premenopause; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000378:metabolism; D012307:Risk Factors
chemical_list: D020413:3' Untranslated Regions; D001141:Aromatase; D018719:Erb-b2 Receptor Tyrosine Kinases; C508053:ERBB2 protein, human