PR19 Clinical management of uncertain significance variant in hereditary breast and ovarian cancer (HBOC): a survey of genetic counselling practice

Results: In results of genotyping groups of patients with breast cancer by allelle specific polymerase chain reaction in the real time mode, were observed in 3 patients have heterozygote mutation of BRCA1 5382insC (4.5%) presented possible “founder” mutation. Among them 1 patient had primary multiple form of breast cancer and 2 patients had hereditary disease history. Mutation of BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G and BRCA2 6174delT gene were not detected in all cases. Studied mutation was not observed in control group. Conclusion: Result of our study confirmed contribution of mutation 5382insC gene BRCA1 in developing of breast cancer in Uzbek population. Considering high penetration of disease in carrier of mutation BRCA1, is expedient include testing 5382insC mutation in screening program in breast cancer prophylactics in Uzbekistan.