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Information × Registration Number 0219U102282, 0117U002680 , R & D reports Title Personalized approach in diagnostics, treatment and prophylaxis of inherited breast cancer popup.stage_title Head Vereshchako Roman I., Доктор медичних наук Registration Date 26-12-2019 Organization Bogomolets National Medical University, Ministry of Health of Ukraine popup.description2  As a result, the genetic characteristics of patients with breast cancer and healthy patients with hereditary predisposition to breast cancer were studied. 5382insC BRCA1 gene mutation was detected among breast cancer and healthy patients with family history. IVS2+1G>A and I157T CHEK2 gene mutations was found in breast cancer patients with family history. Breast cancer in combined BRCA1 and ТР53 genes mutations carriers was triple negative and was associated with decreasing overall survival after develop brain metastases. However, breast cancer in BRCA1 gene mutation carriers without ТР53 gene mutation was not only triple negative but luminal B type and was not observed so aggressive course of the disease without differences in treatment. Breast cancer in combined BRCA1 and CHEK2 or TP53 and CHEK2 genes mutations carriers was frequently ER/PR-positive with favorable course. In summary, our results showed the association between BRCA1, CHEK2 and TP53 mutations prevalence found among women with family history of breast cancer. Moreover, TP53 and CHEK2 mutations we identified with influencing on clinical features. After analyzed combination BRCA1/2, CHEK 2 and TP53 mutations in breast cancer patients with high-risk family history we supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer. Taking into account the obtained data, evaluation of clinical and morphological characteristics of tumors, disease course, family and hereditary history, modern approaches and protocols of prevention, diagnosis and treatment of patients with hereditary forms of breast cancer and prevention of development of hereditary breast cancer have been developed. Product Description popup.authors Vereshchako Roman I. Lobanova Olga E. Cheshuk V. E. popup.nrat_date 2020-04-02 Close