title: MspA1 polymorphism of the CYP17 gene in breast cysts.
abstract: OBJECTIVE
  To study the prevalence of breast cysts in several age groups of the general female population and their association with the MspAI polymorphism of the gene CYP17.
  
  
  RESULTS
  In 204 ultrasound tests, cysts were present in 22% of the studied population. The epidemiological-clinical profile of these women was Caucasian, aged 41-50 years, regular menstrual cycles, multiparous and complaining of mastalgia. The genetic distribution of polymorphisms of the gene displayed Hardy-Weinberg equilibrium and the wild homozygous phenotype was observed in 36.4% of the case group and in 37.6% of the control groups; the heterozygous phenotype was observed in 50% of the study group and 46.3% of control group and a mutated homozygous phenotype was seen in 13.6% of the study group and 16.1% of the controls. There was no statistically significant difference between the groups (p = 0.92).
  
  
  CONCLUSIONS
  The prevalence and most of the epidemiological profile of breast cysts were in agreement with the literature. There was no statistically significant difference among the genotypic groups (wild homozygous, heterozygous and mutated homozygous), despite a slightly increased frequency of the mutated genotype in the control group. This difference indicates a trend of the MspAI polymorphism of the gene CYP17 to act as a protective factor against the development of breast cysts.
authors.affiliation: Department of Gynecology, Universidade Federal de São Paulo, Escola Paulista de Medicina UNIFESP/EPM, São Paulo, Brazil. solangepinotti@yahoo.com.br
authors.forename: Solange Cristina Tote Franco
authors.initials: SC
authors.lastname: Pinotti
authors.forename: Ismael Dale Cotrim Guerreiro
authors.initials: ID
authors.lastname: da Silva
authors.forename: Cristina Valeta
authors.initials: CV
authors.lastname: Carvalho
authors.forename: Afonso Celso Pinto
authors.initials: AC
authors.lastname: Nazário
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D047688:Breast Cyst / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D019003:Deoxyribonuclease HpaII / Q000378:metabolism*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D015995:Prevalence; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics* / Q000378:metabolism; D014463:Ultrasonography; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D013254:Steroid 17-alpha-Hydroxylase; D019003:Deoxyribonuclease HpaII