My note on paper: RNF43 is frequently mutated in colorectal and endometrial cancers
Paper: RNF43 is frequently mutated in colorectal and endometrial cancers
(doi: 10.1038/ng.3127)
Before that there were the studies showed that RNF43 was the oncogene in colorectal cancer which meant that cancer cell overexpress this gene in order to keep the cancerous characteristic. Ten years later, this study showed that RNF43 was the tumor suppressor gene in MSI-colorectal cancer.
The new discovery relies on the new technology as well as the way to categorize the cancer subtype, at the very beginning it depended on the cellular histology under the microscope, and lately, it has been shifted to the molecular level which can inform more detail on the pathogenesis, disease progression and the treatment outcomes.
Note on this paper;
colorectal cancer and endometrial cancer -- Wnt-dependent tumor type; MSI-common
1. whole exome sequencing of colorectal cancer (FFPE; 185 samples)
2. found out large number of RNF43 non-silent mutations; 18.9% of case
3. found frameshift mutations p.Gly659fs (major) and p.Arg117fs (minor) (7 and 6, respectively, C-G mononucleic repeat -- homopolymeric tracts -- it is the area which is defined as microsatellite instability (MSI))
4.the results in this study is contradicted by the previous result on TCGA --> reanalyzing the data in TCGA again
5. The results obtaining from reanalyzed data were correlated with this study by which RNF43 was highly mutated in colorectal tumors.
6. The team also analyzed the endometrial cancer and found 18.1% of cases with p.Gly659fs (major) and p.Arg117fs (minor)
7. using their own develop algorithms (InVEx) -- inform that the result of RNF43 mutation would come from the positive selection of MSI (my guess would be --> MSI is affected by the defect in MMR gene; through the hypermethylation, then causing the hypermutation across all the genome, esp., microsatellite regions and this included exonic region of RNF43, the repetitive region).
8. Highly potential that truncated mutation of RNF43 --> found together with mutation of APC --> just to support wnt-drived cancer
Fig 1. Characteristic of mutations found on the RNF43 exons
Fig 2. Molecular genetic profile of colorectal and endometrial cancers and mutation characteristics that have been found in each subtype.
---
Of note;
Wnt pw dysregulation cancer
1.stomach cancer
2.colorectal cancer
3.endometrial cancer
4.cholangiocarcinoma?
(doi: 10.1038/ng.3127)
Before that there were the studies showed that RNF43 was the oncogene in colorectal cancer which meant that cancer cell overexpress this gene in order to keep the cancerous characteristic. Ten years later, this study showed that RNF43 was the tumor suppressor gene in MSI-colorectal cancer.
The new discovery relies on the new technology as well as the way to categorize the cancer subtype, at the very beginning it depended on the cellular histology under the microscope, and lately, it has been shifted to the molecular level which can inform more detail on the pathogenesis, disease progression and the treatment outcomes.
Note on this paper;
colorectal cancer and endometrial cancer -- Wnt-dependent tumor type; MSI-common
1. whole exome sequencing of colorectal cancer (FFPE; 185 samples)
2. found out large number of RNF43 non-silent mutations; 18.9% of case
3. found frameshift mutations p.Gly659fs (major) and p.Arg117fs (minor) (7 and 6, respectively, C-G mononucleic repeat -- homopolymeric tracts -- it is the area which is defined as microsatellite instability (MSI))
4.the results in this study is contradicted by the previous result on TCGA --> reanalyzing the data in TCGA again
5. The results obtaining from reanalyzed data were correlated with this study by which RNF43 was highly mutated in colorectal tumors.
6. The team also analyzed the endometrial cancer and found 18.1% of cases with p.Gly659fs (major) and p.Arg117fs (minor)
7. using their own develop algorithms (InVEx) -- inform that the result of RNF43 mutation would come from the positive selection of MSI (my guess would be --> MSI is affected by the defect in MMR gene; through the hypermethylation, then causing the hypermutation across all the genome, esp., microsatellite regions and this included exonic region of RNF43, the repetitive region).
8. Highly potential that truncated mutation of RNF43 --> found together with mutation of APC --> just to support wnt-drived cancer
Fig 1. Characteristic of mutations found on the RNF43 exons
Fig 2. Molecular genetic profile of colorectal and endometrial cancers and mutation characteristics that have been found in each subtype.
---
Of note;
Wnt pw dysregulation cancer
1.stomach cancer
2.colorectal cancer
3.endometrial cancer
4.cholangiocarcinoma?
Comments
Post a Comment