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). CONCLUSION: 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.
Subject(s)
Breast Cyst/genetics , Deoxyribonuclease HpaII/metabolism , Polymorphism, Restriction Fragment Length , Steroid 17-alpha-Hydroxylase/genetics , Adolescent , Adult , Aged , Breast Cyst/diagnostic imaging , Breast Cyst/epidemiology , Breast Cyst/ethnology , Case-Control Studies , Female , Gene Frequency , Genetic Predisposition to Disease , Humans , Middle Aged , Polymorphism, Restriction Fragment Length/genetics , Prevalence , Steroid 17-alpha-Hydroxylase/metabolism , Ultrasonography , White People/genetics , Young AdultABSTRACT
BACKGROUND: The majority of studies have reported risks of breast cancer (BC) from benign breast disease (BBD) in essentially homogenous Caucasian populations. Information on breast cancer risk factors in larger, multi-ethnic populations should facilitate the development of appropriate and targeted risk reduction strategies. DESIGN: Cases and controls were drawn from a parent BBD cohort of 4,970 women, 1,341 African-Americans (AA) and 3,629 non-AA who were diagnosed with BBD after examination of an excisional breast biopsy. Risk factors (34 variables) included demographics, lesion types, and epidemiological variables. RESULTS: The final multivariable model retained significance (P < 0.05) for lesion risk-level, fibroadenoma, and the interaction of age-by-race. Women with proliferative lesions (no atypia, risk level 2) were 1.7 times more likely to develop BC when compared with women with non-proliferative lesions (OR = 1.7, 95% CI 1.13, 2.42, P = 0.009). Women with atypia (risk level 3) were 3.75 times more likely to develop BC compared to women with non-proliferative lesions (OR = 3.75, 95% CI 1.99, 7.06, P < 0.001). The odds of breast cancer was approximately 35% lower among women with fibroadenoma as compared to women without fibroadenoma (OR = 0.65, 95% CI 0.46, 0.94, P = 0.020). AA women with BBD who were 50 years or older were 2.28 times more likely to develop breast cancer as compared to non-AA women who were less than 50 years old (OR = 2.28, 95% CI 1.34, 3.88, P = 0.002). CONCLUSION: Women with fibroadenoma (nonproliferative or proliferative) were less likely to progress to BC. Older AA women are at greater risk for progression to breast cancer from BBD.
