The Role of Genetic Factors in the Development of Breast Cancer in the Kazakh Population

Preventive and Personalized Medicine (2021-2023)

This is a GWAS study that aims to identify possible candidate genes associate to breast cancer by exploring single nucleotide polymorphism (SNP) in a group of breast cancer, in the Kazakh population. The investigators hypothesize that the careful phenotyping of the subject sand matching with increase the power to find SNP significantly associate with breast cancer

A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases. The method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease. Once such genetic markers are identified, they can be used to understand how genes contribute to the disease and develop better prevention and treatment strategies.

Inclusion Criteria:

• Persons with a histologically confirmed diagnosis of breast cancer.
• The age of patients is from 18 to 60 years;
• Persons of Kazakh nationality, whose paternal and maternal grandparents are Kazakhs.
• Persons who are able and willing to provide written informed consent;
• Persons capable and willing to comply with the research protocol;

Exclusion Criteria:

• Persons under 18 and over 60 years old;
• Persons who, in the opinion of the researcher, are mentally or legally incapacitated, which prevents obtaining informed consent;
• Pregnant or lactating women;
• Tuberculosis of any localization in the active phase and in history;
• Severe and decompensated diseases of the liver and kidneys, cardiovascular system;
• Severe and decompensated course of endocrine diseases;
• Lack of histological verification of breast tumor