Oncology
BRCA1 & BRCA2 - methods for early diagnostics of breast cancer

Description

Screening of mutations in genes BRCA 1 and BRCA 2, connected with the emergence of breast cancer
5 per cent of breast cancer cases are hereditary
Mutations in genes BRCA1 and BRCA 2 are associated with the hereditary breast cancer. The detection of these mutations on patients increases the risk of the disease emergence up to 80 per cent
For the screening of mutations in genes BRCA1 and BRCA 2 the method of polymerase chain reaction (PCR) is used
For the performance of genetic typing the DNA released from blood is used
The results of the research are documented with the help of videos-canning

Results and analysis

For the research blood sampling of 1 ml is necessary
The PCR diagnostics involves the detection of 22 mutations in genes BRCA1 and BRCA 2 with following sequencing of mutant variants
This method of research enables detecting the genes carrier of sporadic cancer, which is on record in 95 per cent cases of all kinds of breast cancers

Summary:

It is detected that the decrease of expression activity of the transforming growth factor TGFB1 and receptor its TGFBR1 is associated with the increase of risk of the emergence of breast cancer.
It is also detected that the decrease of the effectiveness of TGFB1 and TGFBR1 interaction against a background of their higher expression leads to the increase of risk of the emergence of breast cancer