Publications by authors named "Mikhail G Bubnov"
The technique 3' rapid amplification of cDNA ends (3' RACE) allows for detection of translocations with unknown gene partners located at the 3' end of the chimeric transcript. We composed a 3' RACE-based RNA sequencing panel for the analysis of gene rearrangements, detection of activating mutations located within , and genes, and measurement of the expression of and transcripts. This NGS panel was utilized for the molecular profiling of 168 biliary tract carcinomas (BTCs), including 83 intrahepatic cholangiocarcinomas (iCCAs), 44 extrahepatic cholangiocarcinomas (eCCAs), and 41 gallbladder adenocarcinomas (GBAs).
View Article and Find Full Text PDFThis study aimed to conduct a comprehensive analysis of actionable gene rearrangements in tumors with microsatellite instability (MSI). The detection of translocations involved tests for 5'/3'-end expression imbalance, variant-specific PCR and RNA-based next generation sequencing (NGS). Gene fusions were detected in 58/471 (12.
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- - The study analyzed genetic alterations in 8,355 colorectal cancer (CRC) samples, revealing that 49.5% had detected mutations, with common and rare substitutions noted across different gene codons.
- - There were significant findings related to the Q61K substitution and its association with a second mutation, along with geographic variations affecting mutation frequencies, particularly lower rates in warmer climates of Southern Russia.
- - The presence of combined genetic alterations was rare, with only 1.4% of cases showing both mutation and microsatellite instability, while a very small percentage had simultaneous changes in two driver genes.