BRCA1 ir BRCA2 genų pažaidos, aptiktos Genetikos ir molekulinės medicinos klinikos laboratorijoje

Kučinskaitė, Dovilė

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BRCA1 ir BRCA2 genų pažaidos, aptiktos Genetikos ir molekulinės medicinos klinikos laboratorijoje

Kučinskaitė, Dovilė

URI: http://dspace.kaunokolegija.lt//handle/123456789/228

Data: 2018-06

Santrauka:

Darbe buvo analizuojamos BRCA1 ir BRCA genų pažaidos, aptiktos Genetikos ir molekulinės medicinos klinikos laboratorijoje 2015 – 2017 metais. Tyrimo metu buvo ieškoma, kuri mutacija aptikta dažniausiai, koks tirtų asmenų pasiskirstymas pagal amžių, kokia sergančių moterų ir vyrų procentinė dalis, turinčių BRCA geno mutaciją. Tyrimo rezultatai lyginami su mokslinės literatūros duomenimis

Description:

Relevance of the work: According to the Lithuanian Department of Statistics in Lithuania 45 women out of 100,000 are suffering from breast cancer. Scientists have identified inherited changes in the BRCA1 and BRCA2 genes that determine the development of breast and ovarian cancer. Research object: BRCA1 and BRCA2 genes. Research goal: to find out the lesions of BRCA1 and BRCA2 genes detected in the Laboratory of Genetics and Molecular Medicine Clinic from 2015 to 2017. Research objectives: 1. To examine scientific literature on the prevalence of BRCA1 and BRCA2 gene polymorphisms, possible mutations and mutations in the incidence of breast and ovarian cancer. 2. To determine the lesions of the BRCA1 and BRCA2 genes out of people suffering from cancer in the Laboratory of the Genetics and Molecular Medicine Clinic, from 2015 to 2017. 3. To analyze BRCA1 and BRCA2 gene mutations in the Laboratory of Genetics and Molecular Medicine Clinic in 2015-2017. Research methods: 1. The Analysis of scientific literature on the prevalence of BRCA1 and BRCA2 gene polymorphisms, possible mutations and the effect of mutations on the incidence of breast and ovarian cancer. 2. Quantitative research method. 3. Statistical analysis of data using Microsoft Excel 2010. Research results: From 2015 to 2017 Genetic and Molecular Medicine Clinic scientists have not detected BRCA2 gene mutations. The most common mutated gene was BRCA1 4153delA, it was 42% in all cases. The rarest mutated gene was BRCA1 185delAG and 2080delA. It was only 1% in all cases. Conclusions: 1. One out of 800 individuals in the population contains pathogenic hereditary BRCA1 and BRCA2 gene carriers. The frequency of gene mutations varies between countries and ethnic groups. The overall risk of developing breast cancer with the BRCA1 gene mutation is 65 percent, and ovarian cancer is 39 percent. With the changes in the BRCA2 gene, breast cancer has a 45% risk of developing breast cancer and 11% in ovarian cancer. 2. The BRCA2 gene has not been detected in the Laboratory of Genetics and Molecular Medicine Clinic from 2015 to 2017. 1 out of 9 cancer patient had lesions in the BRCA1 gene. 3. From 2015 to 2017 in the Laboratory of Genetics and Molecular Medicine Clinic scientists have detected BRCA1 gene lesions: 185delAG, 2080delA, 300T>G(C61G), 4153delA, 5382insC. The most common detection was BRCA1 gene 4153delA mutation. The rarest was BRCA1 gene 185delAG and 2080delA mutations.

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