title: Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.
abstract: Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥ 12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.
authors.affiliation: Programa de Pós-Graduação em Medicina, Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.
authors.forename: J
authors.initials: J
authors.lastname: Giacomazzi
authors.forename: E
authors.initials: E
authors.lastname: Aguiar
authors.forename: E I
authors.initials: EI
authors.lastname: Palmero
authors.forename: A V
authors.initials: AV
authors.lastname: Schmidt
authors.forename: G
authors.initials: G
authors.lastname: Skonieski
authors.forename: D D
authors.initials: DD
authors.lastname: Filho
authors.forename: H
authors.initials: H
authors.lastname: Bock
authors.forename: M L
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.forename: I P
authors.initials: IP
authors.lastname: Ewald
authors.forename: L
authors.initials: L
authors.lastname: Schuler-Faccini
authors.forename: S A
authors.initials: SA
authors.lastname: Camey
authors.forename: M
authors.initials: M
authors.lastname: Caleffi
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
authors.forename: P
authors.initials: P
authors.lastname: Ashton-Prolla
mesh_terms: D000328:Adult; D000368:Aged; D015992:Body Mass Index; D001938:Brazil; D000071060:Breast Density; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D042361:Mammary Glands, Human / Q000002:abnormalities; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D015995:Prevalence; D011980:Receptors, Progesterone / Q000235:genetics*; D012307:Risk Factors
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D011980:Receptors, Progesterone; C025580:endodeoxyribonuclease XBAI; D015252:Deoxyribonucleases, Type II Site-Specific