Аннотация
Abstract Background The study focused on determining survival rates between breast cancer patients with various germinal mutations and those without mutations among Kazakh women. Methods The study included 222 female patients of Kazakh ethnic group diagnosed with stage I-IV stage breast cancer at the age up to 40 years old. DNA samples were tested by next-generation sequencing on the MiSeq Illumina platform using Trusight Cancer kit for the analysis of 94 genes and 287SNPs. Information about dates of diagnosis and death retried from cancer registry system. Survival analyses were performed and compared mutation carriers and non-carriers subgroups. The 5-year survival was calculated using the Kaplan-Meier method. Results Next generation sequencing test identified 11 various pathogenic mutations in 57(25.7%) of overall 222 patients. The 5-year survival analysis for mutation carriers were 72.1%and 82.1% for non-carriers, with no statistically significant difference(P0.232). When stratified by mutational type, the 5-year survival rates were 71.8% for BRCA1 carriers, 81.3% for BRCA2, 53.35% for TP53 and 50% for moderate risk gene PALB2 mutation. These findings suggest that mutations in certain genes may be associated with differences in survival outcomes. Conclusions In breast cancer patients of Kazakh population similar to the world prevalence and predictive value of germline mutations have been found. A subcohort of mutation carriers and non-carriers demonstrated no significant difference in 5-year survival rate which may be associated with an early onset of disease, high-risk predictor of poor prognosis. Long-term survival and detailed PFS will be published according to information of follow-up visits and the cancer register system. Citation Format: Dilyara Kaidarova, Nazgul Omarbayeva, Aliya Abdrakhmanova, Oxana Shatkovskaya, Dilyar Omarov. The survival rate of hereditary breast cancer in young women of Kazakh population [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-08-11.