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Abstract
Introduction. There is an absence of data regarding the frequency of common germline mutations in patients diagnosed with breast cancer (BC) in the Republic of Sakha (Yakutia), where the majority of the population are indigenous people of Turkic-Mongolian (Asian) origin. Yet, these data are of critical importance for the purposes of prognosis and treatment planning.
Aim. To identify common and rare germline mutations in patients from the Yakut Republican Oncology Dispensary with an established BC diagnosis.
Materials and methods. The study included 254 women with a confirmed BC diagnosis registered at the Yakut Republic Oncology Dispensary. Patients were selected at random, with no consideration given to family history of the disease. All patients were screened by PCR for frequent “Slavic” BC-associated mutations. Next-generation sequencing (NGS) testing was performed in 138 patients who had negative PCR screening results and consented to the study.
Results. PCR analysis revealed mutations in 7.0 % of patients of Russian nationality. No mutations were identified in patients from Yakut and other ethnic groups. NGS analysis revealed mutations in 8 % of Russian patients, 10.3 % of Yakut patients and one Evenki woman.
Conclusions. The detection of common 'Slavic' mutations by PCR is effective for the Slavic nationalities (like Russians), but not for the indigenous people of Yakutia (Yakuts). The analysis showed that NGS is needed to detect mutations linked to BC in women from the Yakut and other indigenous communities in Yakutia.
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