title: Polymorphism 1558 C > T in the aromatase gene (CYP19A1) in low-grade endometrial stromal sarcoma.
abstract: Low-grade endometrial stromal sacomas (ESS) are estrogen-sensitive tumors. Polymorphic variation in the CYP19 gene can affect estrogen synthesis by increasing aromatase activity resulting in elevated levels of estrone and estradiol. We examined the polymorphism 1558 C > T in he aromatase gene (CYP19A1) in a series of 20 low-grade endometrial stromal sarcomas. Archival formalinfixed and paraffin-embedded material was analyzed with a fast real-time PCR system. The homozygous C/T- and the homozygous mutant T/T-genotypes were detected in 10/20 (50%) and 7/20 (35%) samples, respectively. Polymorphism 1558 C > T in the aromatase gene may represent a high-risk allele with increased local estrogen levels.
authors.affiliation: Department of Obstetrics and Gynecology, Medical University of Graz, Austria. olaf.reich@meduni-graz.at
authors.forename: O
authors.initials: O
authors.lastname: Reich
authors.forename: S
authors.initials: S
authors.lastname: Regauer
authors.forename: C
authors.initials: C
authors.lastname: Tempfer
authors.forename: C
authors.initials: C
authors.lastname: Schneeberger
authors.forename: J
authors.initials: J
authors.lastname: Huber
mesh_terms: D001141:Aromatase / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D060787:Neoplasm Grading; D020641:Polymorphism, Single Nucleotide; D018203:Sarcoma, Endometrial Stromal / Q000235:genetics*
chemical_list: D001141:Aromatase; C561410:CYP19A1 protein, human