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Effect of R264C polymorphism in CYP19A1 gene on BRCA1/2-negative hereditary breast cancer from Shanghai population of China / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 181-183, 2006.
Artigo em Chinês | WPRIM | ID: wpr-263824
ABSTRACT
<p><b>OBJECTIVE</b>Aromatase, encoded by CYP19A1, play an important role in estrogens biosynthesis from androgens. The present study is to investigate effect of R264C single nucleotide polymorphism in CYP19A1 gene on genetic susceptibility for hereditary breast cancer without BRCA1/2 mutant.</p><p><b>METHODS</b>One hundred and fourteen BRCA1/2 -negative hereditary breast cancer patients from independent families and 121 age-matched healthy control subjects were analyzed. Genotype analysis was performed through polymerase chain reaction (PCR) and then DNA direct sequencing. The odd-ratios (OR) and 95% confidence intervals (CI) were calculated by unconditional Logistic regression model.</p><p><b>RESULTS</b>The frequency of R264C single nucleotide polymorphism CC, CT and TT genotype in case group and controls was 84(77.8%), 22(20.4%), 2(1.8%) and 87(77.7%), 24(21.4%), 1(0.9%), respectively. CT genotype (OR=1.16, 95%CI 0.53-2.55) and TT genotype (OR=1.44, 95%CI 0.12-17.15) did not confer a significantly increased risk for breast cancer. No significant association was found between T allele and susceptibility for breast cancer under analysis according to menopausal status and body mass index.</p><p><b>CONCLUSION</b>R264C polymorphism in CYP19A1 gene is not a candidate locus for low penetrance breast cancer susceptibility in Shanghai group of Chinese population and not recommended in clinical genetic test. Homozygous T allele of R264C is not common in Shanghai group of Chinese population.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Polimorfismo Genético / Neoplasias da Mama / Dados de Sequência Molecular / Sequência de Bases / Esteroide 17-alfa-Hidroxilase / China / Proteína BRCA1 / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Proteína BRCA2 Limite: Adulto / Idoso / Feminino / Humanos País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2006 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Polimorfismo Genético / Neoplasias da Mama / Dados de Sequência Molecular / Sequência de Bases / Esteroide 17-alfa-Hidroxilase / China / Proteína BRCA1 / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Proteína BRCA2 Limite: Adulto / Idoso / Feminino / Humanos País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2006 Tipo de documento: Artigo