Related Experiment Video
Updated: Jun 2, 2026
Detection of a Circulating MicroRNA Custom Panel in Patients with Metastatic Colorectal Cancer
Published on: March 14, 2019
Mutation screening of the SMARCA3 gene in Swedish colorectal cancer patients
Tatjana Djureinovic1, Simone Picelli, Antonia Kalushkova
1Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.
Abstract:
The SMARCA3 gene was recently found to be a common target for methylation in colon and gastric cancer, suggesting it has possible tumor suppressor activity. To determine whether SMARCA3 plays a role in colorectal and/or gastric cancer predisposition, a mutation screening of the gene was performed in affected index cases from 20 Swedish families with colorectal and/or gastric cancer. Notably, one family included in the screening exhibited suggestive linkage to the region on chromosome 3q that harbors the SMARCA3 gene. In addition to known polymorphisms, nine novel variants - none of them clearly pathogenic - were detected. Seven of these variants were further tested in an additional 287 patients with a family history of the disease, but their frequency was found to not be significantly different from that observed in the controls. In conclusion, although a very low effect of some variants could not be excluded, it seems that the SMARCA3 gene does not play an important role in the predisposition to colorectal and gastric cancer.
Insights
The SMARCA3 gene, investigated for its potential tumor suppressor role, was screened in families with colorectal and gastric cancer. This study found no significant evidence that SMARCA3 mutations predispose individuals to these common cancers.
Area of Science:
- Genetics
- Oncology
Background:
- SMARCA3 gene methylation is common in colon and gastric cancers, suggesting tumor suppressor activity.
- Investigating SMARCA3's role in hereditary colorectal and gastric cancer is crucial.
Purpose of the Study:
- To determine if SMARCA3 gene mutations contribute to predisposition in colorectal and gastric cancer.
- To screen for SMARCA3 variants in Swedish families with a history of these cancers.
Main Methods:
- Mutation screening of the SMARCA3 gene in index cases from 20 Swedish families.
- Analysis of genetic linkage to chromosome 3q, where SMARCA3 is located.
- Testing of novel SMARCA3 variants in a larger cohort of patients and controls.
Main Results:
- Nine novel SMARCA3 variants were identified, but none were clearly pathogenic.
- No significant difference in the frequency of seven tested variants was found between patients and controls.
- Suggestive linkage to the 3q region was observed in one family.
Conclusions:
- SMARCA3 gene mutations do not appear to be a significant factor in colorectal and gastric cancer predisposition.
- While a minor effect of some variants cannot be entirely ruled out, SMARCA3 is unlikely to be a major susceptibility gene for these cancers.
