A New Mutation Associated with the Development of Oncological Diseases of the Reproductive System is Revealed

Specialists of the epigenetics laboratory at the Research Centre for Medical Genetics together with specialists from the Moscow City Oncological Hospital 62 and the Institute of Novosibirsk Chemical Biology and Fundamental Medicine conducted an all-Russian study and identified the most frequent mutations leading to ovarian cancer in women. The study has been conducted since 2015, and oncological clinics have been connected to it throughout Russia, from Kaliningrad to Vladivostok.

Patients with ovarian cancer were first genetically examined - BRCA1, BRCA2 genes were researched, pathogenic mutations in which cause breast and ovarian cancer. Of the patients whose disease was caused by genetic changes rather than other factors, a group of 1399 was formed. In this group, researchers estimated the frequency of various mutations of the BRCA1, BRCA2 genes. The evaluation selected 18 of the most common pathogens.

In addition, RCMG specialists have identified a new mutation in the genes BRCA1, BRCA2, which also leads to oncological diseases of the female reproductive system. A group of NMRC on oncology scientists named after N.N. Petrov (St. Petersburg) under the guidance of the head of the scientific department of tumor growth biology E.M. Imyanitov found that a new mutation in 90% of the identified cases occurs in patients of the Caucasus region.

“Information about eighteen frequent mutations detected, as well as one new mutation, is of great value to diagnostic tests developers. The results of the long-term All-Russian research demonstrate that when developing diagnostic panels it is necessary to take into account regional features: to include mutations that are often found in a specific territory of Russia”, - said Vladimir Strelnikov, the head of the epigenetics laboratory at RCMG, Holder of an Advanced Doctorate in Biological Sciences.

He noted that this would allow to select the most effective treatment in each case. If mutations are detected before the disease develops, knowledge of them will allow you to create individual screening programmes to notice the onset of tumor development and prevent severe consequences.

For more information: https://link.springer.com/article/10.1007/s10549-022-06782-2