HEALTH OF WOMAN. 2016.1(107):187–191; doi 10.15574/HW.2016.107.187 
 

Genetic risk factor for fibrocystic brest disease in women with infertility 
 

Kornatskа A. G., Gorovenko N. G., Dubenko O. D., Rossoha Z. I.

SI «Institute of Pediatrics, obstetrics and gynecology NAMS of Ukraine», Kyiv

National medical Academy of postgraduate education P. L. Shupyk, Kyiv

State institution «The Reference center for molecular diagnosis of Ministry of health of Ukraine», Kyiv 
 

To analyze the impact of identified genetic factors we were involved in 87 women of reproductive age with primary and secondary infertility. Genetics of 87 women were analyzed through questionnaires to cases of cancer, including breast cancers ovarian relatives of first and second degree of kinship. Patients with burdened heredity were examined for the presence of three major mutations in the genes BRCA1 and BRCA2, in one of the five patients was identified mutation in the gene BRCA1 5382insC in the heterozygous state. Patients were started first in Ukraine to test G1082A mutation in the gene as a risk factor ESR2 mastitis in various forms of infertility. But the available mutation was found in heterozygous state in only 1 of 28 patients, its prevalence was only 3.5%, so further analysis G1082A mutation in the gene ESR2 was discontinued. Discovered frequency of genotypes for the genes FSHr and IFN-г in 87 examined women showed the feasibility of their use in statistical analysis according to existing requirements, where it is believed that the prevalence of genotype, which is considered as a marker should not be less than 10%, and in the case of 20% expected successful search informative marker. According to our analysis, patients with genotype 307Ala/Ala / 680Ser/Ser FSHr for gene had an increased risk of mastitis and patients with genotype 307Thr / Thr / 680Asn / Asn – on the contrary decreased. And the presence of variant combinations 307Ala/Ala/680Ser/Ser for FSHr genome of genotype on gene 874TA + IFN-g in patients with infertility additionally increased the risk of fibrocystic breast disease. 
 

Key words: infertility, fibrocystic breast disease, genes BRCA1, BRCA2, FSHr, ESR2 , IFN-g. 
 

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