Sug Hyung Lee

TL;DR: The data reveal that the TSG genes EGR1 and BRSK1 carry mutational ITH as well as frameshift mutations in MSI-H CRC and GC, which together may be features of GC and CRC with MSI- H.

TL;DR: The data suggest that somatic mutational events in PARK2 gene may be rare in colorectal, gastric, prostate, breast and lung carcinomas and may not play an important role in the development of these cancers.

TL;DR: This study analyzed somatic DOK2 mutation in five types of common solid cancers, andDOK2 protein expression in gastric (GC) and colorectal cancers (CRC) by immunohistochemistry and mutation detection and loss of heterozygosity (LOH) was defined as a significant reduction in the intensity of one of the two alleles in tumor DNA compared with two allele (informative cases) in normal DNA.

TL;DR: The results indicate that the APAF1, BAX, and FLASH genes not only harbor frameshift mutations but also demonstrate mutational ITH, which together might play a role in the tumorigenesis of CRC with MSI-H by affecting the apoptosis of cancer cells.

TL;DR: Direct DNA sequencing of the cancers with the aberrant bands led to identification of a recurrent MARS mutation in the T9 repeat sequences, which would result in premature stops of the amino acid synthesis (p.Leu71CysfsX33).