Research Centre for Medical Genetics
New data were obtained on the relationship of gene expression with cancer progression, survival characteristics and response to drug exposure. In molecular genetic studies, a systematic research was conducted for the first time in Russia; the mutation spectra and other structural features of BRCA1, BRCA2, MLH1, MSH2, CDH1, APC genes were revealed in familial history of breast, ovarian, colon, gastric cancer and familial adenomatous polyposis.
During the research, some new data of fundamental scientific importance were obtained. In particular, some previously unknown mutations have been found in genes under research. A mutation in BRCA1 gene that is prevalent in breast cancer and/or ovarian cancer, typical for the Russian population, has been identified and a hypothesis has been suggested and proved for the origin thereof in Russia. Some fundamental ideas about the relationship between the features of BRCA1 and BRCA2 genes primary structure and the type of tumors have been developed. The APC gene segments were identified where about 80% of the entire mutation spectrum was concentrated. About half of mutations were new in the identified spectrum of mutations in APC gene that is, they were not found in other ethnic groups. The ideas about the occurrence of most mutations in APC gene de novo have been put forward. It was found out that a significant proportion of gastric cancer a deux was due to mutations in MLH1 and MSH2 genes.
Prof. Karpukhin has a long history of research on structural and functional organization of the human genome and its elements in health and genetic abnormalities, as well as in development and use of molecular diagnostic methods. In this regard, he singled out and characterized the new structural elements of genome included in the international gene database, developed new methods for analyzing its three-dimensional structure and created new methods for molecular diagnostics, protected by 7 author’s certificates.
The new facts obtained in the course of research provided the basis for the development of effective methods for DNA-diagnostics as the hereditary susceptibility to a number of oncological diseases, and for the therapy individualization.