Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women
Braz. j. med. biol. res
; 45(10): 891-897, Oct. 2012. tab
Artigo
em Inglês
| LILACS
| ID: lil-647746
Biblioteca responsável:
BR1.1
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Polimorfismo Genético
/
Neoplasias da Mama
/
Desoxirribonucleases de Sítio Específico do Tipo II
/
Receptores de Progesterona
/
Predisposição Genética para Doença
/
Receptor alfa de Estrogênio
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo de prevalência
/
Estudo prognóstico
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2012
Tipo de documento:
Artigo
País de afiliação:
Brasil
/
França
Instituição/País de afiliação:
Associação Hospitalar Moinhos de Vento/BR
/
HCPA/BR
/
International Agency for Research on Cancer (IARC)/FR
/
UFRGS/BR
/
Universidade Federal do Rio Grande do Sul (UFRGS)/BR