Genetic and clinical characteristics of BRCA-associated hereditary breast cancer in the West region of Kazakhstan

Abstract

Abstract Breast cancer is the most common cancer in women and is cause mortality in many countries. The purpose of this article is to determine the BRCA1 BRCA2 gene mutation polymorphisms, as well as to determine the clinical, histopathological and prognostic characteristics in patients with breast cancer in the western region of Kazakhstan. A study was conducted on the genotyping of 278 patients in the MC ZKMU Marat Ospanov with an established diagnosis of breast cancer, which revealed that out of 278 patients, of three cases were identified. In the age category up to 50 years, 70 cases were detected (25.1%) after 50 years 208 cases were identified (74%). Number of patients in stage I was 20 (7.1%) in stage second 204 (73%) and in stage third 54 (19%). By tumor size, 30 (10%) cases were T1, 194 (69%) cases were T2, 35 (12.5%) cases were T3 and 19 cases were T4 (6.8%). According to metastasis of the lymph nodes, no lymph nodes were detected in 107 (38%) cases, 1–3 l/n (Lymph Nodes) in 95 (34%) cases, 4–9 l/n in 12 (4%) cases, 10 l/n in 4 (1.4%) cases and unknown cases was 60 (21%). In 99.6% of patients no distant metastases was detected. According to the molecular classification of the tumor, Luminal type A is most found in this study 147 (52.8%), then Luminal type B 57 (20.5%), HER-2 positive 26 (9.3%) and Triple negative 48 (17.2%). By ethnicity the Kazakh race is 182 (65%) the Caucasian race was 96 (34%). Large population screening studies involving all BRCA1/2 polymorphisms are required to confirm the penetrance, frequency and significance of a wide range of variations of BRCA1/2 genes in the Kazakh population.