PANEL FOR PRIMARY GENETIC TESTING OF HEREDITARY FORM OF BREAST CANCER Russian patent published in 2025 - IPC C12Q1/68 

FIELD: biotechnology.

SUBSTANCE: group of inventions refers to medicine, namely to oncology and genetics, and can be used to detect hereditary form of breast cancer (BC) in primary genetic testing. Described is a panel for determining hereditary form of breast cancer during primary genetic testing, which includes 48 pathogenic variants of genes. Also described is a method for detecting hereditary forms of breast cancer, which is realized by using the created panel. Detection of at least one of the pathogenic variants detected by the above panel in the patient testifies to the presence of the hereditary form of breast cancer. Created diagnostic panel increases the accuracy of detecting the hereditary form of breast cancer in primary genetic testing by including the most common genome-wide variants of the clinically significant (pathogenic) variants of genes associated with an increased or high risk of developing breast cancer.

EFFECT: created panel allows detecting up to 80-90% of hereditary forms of breast cancer within the framework of one diagnostic examination within the framework of primary genetic testing.

2 cl, 4 dwg, 4 tbl, 2 ex