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Oncogenetic research is one of the important activities of the CGRM Genetico. Within the framework of the project on oncogenetics, the following key tasks are being solved:

  1. search for congenital (germline) mutations associated with hereditary forms of cancer and hereditary tumor syndromes. These studies can be useful both for patients with diagnosed cancer (in order to clarify the diagnosis, prognosis, and in some cases for the appointment of targeted therapy), and for healthy individuals with a burdened family history (in order to assess the risks of cancer and take measures on early diagnosis and prevention of cancer development).
  2. search for somatic mutations in a tumor sample in order to clarify the diagnosis, predict the development of the disease, as well as to select the most effective targeted therapy.

The search for germline mutations associated with hereditary cancer is performed using next generation sequencing technology (NGS) using 6 diagnostic panels. The Hereditary Cancer (Complete) panel is the most comprehensive and versatile, with 207 genes associated with an increased cancer risk. The remaining 5 panels are broken down by disease and include 17 to 24 genes associated with hereditary cancers of the breast, ovary, colon, endometrium, stomach, prostate, and pancreas.

The search for somatic mutations in a tumor is also carried out using the NGS method. The laboratory has developed 2 diagnostic panels based on Russian and foreign recommendations for the diagnosis and treatment of oncological diseases: a more complete panel, including 48 genes associated with various types of solid tumors, for which there are recommendations for the appointment of targeted therapy based on a mutational profile, and a targeted panel by 20 genes associated with the development of cancer of the lung, colon, thyroid gland, melanoma and tumors of the central nervous system.