RESUMO
We investigated whether the MDR1 C3435T polymorphism is associated with fibrocystic changes (FCC), infiltrating ductal breast cancer (IDBC), and/or clinical-pathological features of IDBC in Mexican patients. Samples from women who received surgical treatment in 2007 at the Centro Médico de Occidente (México) were included in the analysis. Genotyping was performed by polymerase chain reaction-restricted fragment length polymorphisms in 64 paraffin-embedded breast samples with IDBC, 64 samples with FCC, and 183 peripheral blood samples of healthy females designated as the healthy group (HG). The frequency of the T allele was 41, 45, and 52% for the FCC, IDBC, and HG samples, respectively. Significant differences were only found between the FCC and HG samples [odds ratio (OR) = 0.64, 95% confidence interval (CI) = 0.43-0.96; P = 0.032]. The prevalence of the T/T genotype was 8, 13, and 24% for FCC, IDBC, and HG samples, respectively. Again, statistical differences were only found between FCC and HG samples for the T/T genotype (OR = 0.28, 95%CI = 0.106-0.77; P = 0.009). Although the T allele and the T/T genotype were less frequent in the IDBC group than in the HG, the differences were not significant. Furthermore, no associations were found between the C3435T polymorphism and clinical-pathological features of the IDBC group. Both the FCC and IDBC groups had a high frequency of the C allele relative to the HG in this sample of women from Western Mexico.
Assuntos
Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Doença da Mama Fibrocística/genética , Polimorfismo de Nucleotídeo Único , Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Estudos de Casos e Controles , Feminino , Doença da Mama Fibrocística/patologia , Expressão Gênica , Frequência do Gene , Genótipo , Humanos , México , Pessoa de Meia-Idade , Gradação de Tumores , Polimorfismo de Fragmento de RestriçãoRESUMO
Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with other entities. Megalocornea-mental retardation syndrome, also known as Neuhauser syndrome, is a rare autosomal recessive congenital disorder that presents with megalocornea, mental retardation, hypotonia, and facial dysmorphism, among other signs. With the report of this new case, and after an extensive review of the literature, we attempt to delineate the Neuhauser syndrome phenotype.
