RESUMEN
OBJECTIVE: The research aim is analyzing and identify reliable genetic markers of breast cancer risk in the Kazakh population. METHODS: The databases were analyzed with the selection of polymorphisms associated with the development of breast cancer and further genotypic study of a group of women with a confirmed diagnosis of breast adenocarcinoma (group No. 1) and a group of relatively healthy women (group No. 2). RESULT: The research presents the results of a study on the frequency of certain single-nucleotide polymorphisms in patients with breast cancer in the Republic of Kazakhstan. The frequency of single-nucleotide polymorphisms rs4646, rs1065852, rs4244285, rs67376798, rs6504950, rs2229774, rs1800056, rs16942, rs4987047 is statistically significant compared to the control group of patients. These polymorphisms in the Kazakh population have a direct association with an increased risk of breast cancer in women and may be used as cancer indicators during the genetic screening of patients with a complicated family history. Single-nucleotide polymorphisms such as rs55886062, rs3918290, rs12721655, rs4987117, rs2229774, rs11203289, rs137852576, rs11571833, rs80359062 and rs11571746 were found in more than 40. Zero percent of patients with breast cancer may be used as markers for detecting patients at increased risk of breast malignancy in the Kazakh population without a history of poor family history. CONCLUSION: The usage of the data obtained in a set of state programs for early screening of patients will improve the rates of early breast tumor detection, form groups of patients with a high risk of disease development and improve the quality and expectancy of life.
Asunto(s)
Neoplasias de la Mama , Humanos , Femenino , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Predisposición Genética a la Enfermedad , Genotipo , Polimorfismo de Nucleótido Simple , Riesgo , Estudios de Casos y Controles , Frecuencia de los GenesRESUMEN
Transplantation is the most effective treatment for end-stage chronic kidney disease, as this procedure prolongs and improves the patient's quality of life. One of the key problems is the risk of graft rejection. The purpose of this research was to identify and analyse prognostic factors that will prevent rejection. In particular, the prognostic factors grouped by methods of synthesis, generalisation and statistical processing with calculation and graphical representation of hazard ratio and correlation coefficient were grouped, namely: age of donor and recipient, time of cold kidney ischaemia, duration of preoperative dialysis, body mass index, presence of concomitant diseases (diabetes mellitus, hypertension), primary causes causing transplantation. Several molecular genetic and biochemical prognostic markers (transcription factors, immunocompetent cell signalling and receptors, cytostatin C, creatinine, citrate, lactate, etc.) are annotated. It has been demonstrated that creatinine reduction rate determines the risk of rejection, displaying the dynamics of cystatin C and creatinine changes in the postoperative period. Young recipients who underwent prolonged preoperative dialysis were identified as having the highest risk of rejection. Diabetes and hypertension bear a non-critical but commensurately equal risk of rejection. The survival rate of the graft is better when transplanted from a living donor than from a deceased donor. A correlation between cold ischaemia time, body mass index and the probability of graft failure has been proven, namely, the greater the donor and recipient body mass index and the longer the cold ischaemia time, the lower the chance of successful long-term organ acclimation. The data obtained can be used as prognostic factors for graft accommodation at different intervals after surgery.