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Mutational analysis of FLASH and PTPN13 genes in colorectal carcinomas
Eun Goo Jeong1, Sung Hak Lee, Nam Jin Yoo
1Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Aims:
The Fas-Fas ligand system is considered a major pathway for induction of apoptosis in cells and tissues. FLASH was identified as a pro-apoptotic protein that transmits apoptosis signal during Fas-mediated apoptosis. PTPN13 interacts with Fas and functions as both suppressor and inducer of Fas-mediated apoptosis. There are polyadenine tracts in both FLASH (A8 and A9 in exon 8) and PTPN13 (A8 in exon 7) genes that could be frameshift mutation targets in colorectal carcinomas. Because genes encoding proteins in Fas-mediated apoptosis frequently harbor somatic mutations in cancers, we explored the possibility as to whether mutations of FLASH and PTPN13 are a feature of colorectal carcinomas.
Methods:
We analysed human FLASH in exon 8 and PTPN13 in exon 7 for the detection of somatic mutations in 103 colorectal carcinomas by a polymerase chain reaction (PCR)- based single-strand conformation polymorphism (SSCP).
Results:
We detected two mutations in FLASH gene, but none in PTPN13 gene. However, the two mutations were not frameshift (deletion or insertion) mutations in the polyadenine tracts of FLASH. The two mutations consisted of a deletion mutation (c.3734-3737delAGAA) and a missense mutation (c.3703A>C).
Conclusion:
These data indicate that frameshift mutation in the polyadenine tracts in both FLASH and PTPN13 genes is rare in colorectal carcinomas. Also, the data suggest that both FLASH and PTPN13 mutations in the polyadenine tracts may not have a crucial role in the pathogenesis of colorectal carcinomas.
Insights
Frameshift mutations in FLASH and PTPN13 genes are rare in colorectal carcinomas. These mutations in polyadenine tracts likely do not play a significant role in colorectal cancer development.
Area of Science:
- Molecular Biology
- Cancer Genetics
Background:
- The Fas-Fas ligand system is crucial for apoptosis induction.
- FLASH and PTPN13 are proteins involved in Fas-mediated apoptosis.
- Polyadenine tracts in FLASH and PTPN13 are potential mutation sites in colorectal cancer.
Purpose of the Study:
- To investigate somatic mutations in FLASH and PTPN13 genes in colorectal carcinomas.
- To determine if mutations in polyadenine tracts of FLASH and PTPN13 are common in colorectal cancer.
Main Methods:
- Analysis of FLASH exon 8 and PTPN13 exon 7 in 103 colorectal carcinomas.
- Utilized polymerase chain reaction (PCR)-based single-strand conformation polymorphism (SSCP) for mutation detection.
Main Results:
- Two mutations were identified in the FLASH gene; none were found in PTPN13.
- The detected FLASH mutations were not frameshift mutations within the polyadenine tracts.
- Identified mutations included a deletion (c.3734-3737delAGAA) and a missense mutation (c.3703A>C).
Conclusions:
- Frameshift mutations in the polyadenine tracts of FLASH and PTPN13 are infrequent in colorectal carcinomas.
- Mutations in these specific regions of FLASH and PTPN13 may not be critical drivers of colorectal cancer pathogenesis.
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