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[Genetic alterations in human malignant tumor]
1First Department of Surgery, School of Medicine, University of the Ryukyus, Okinawa.
Abstract:
To clarify the genetic background of cancer patients, microsatellite instability (MSI) and mutations of transforming growth factor-beta type II receptor (RII), p53 and k-ras gene were investigated. MSI were detected in 33.3% of esophageal, 15.8% of gastric, 21.4% of colorectal, 4.5% of bile duct, 0% of gallbladder, 13.3% of pancreatic, 11.6% of breast and 10.5% of thyroid cancers. Mutations of RII gene were detected in only 2 of 9 MSI-positive colorectal cancers. k-ras gene mutations were investigated in colorectal, bile duct, gallbladder, breast and thyroid cancer and were detected in 11.9%, 36.4%, 64.3%, 0%, 0% of each. p53 gene mutations were investigated in colorectal and breast cancer and were detected in 9.5% and 9.3%, respectively. In addition, 4 colorectal cancer cases exhibited more than two kinds of genetic alteration, while breast cancer cases showed only single kind. From these findings, it is suggested that 1) the incidence of each genetic alteration differed among the cancers investigated and organ specificity may exist; 2) the genetic alterations investigated here contributed to a minor part of cancer development, which requires the identification of more unknown genes related to carcinogenesis; 3) to clarify the molecular mechanism of cancer development, the genetic alterations including genomic instability and mutations of several kinds of genes related to cancer development in each case should also be determined along with their genetic molecular profile.
Insights
This study investigated genetic alterations like microsatellite instability (MSI) and gene mutations in various cancers. Findings suggest organ-specific genetic profiles and highlight the need for further research into cancer development mechanisms.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Context:
- Cancer development involves complex genetic alterations.
- Understanding these changes is crucial for diagnosis and treatment.
- This study examines specific genetic markers in various cancer types.
Purpose:
- To investigate the frequency of microsatellite instability (MSI) and mutations in transforming growth factor-beta type II receptor (RII), p53, and k-ras genes across different cancers.
- To explore potential organ specificity in genetic alterations.
- To assess the contribution of these specific genetic changes to overall cancer development.
Summary:
- Microsatellite instability (MSI) was detected in esophageal, gastric, colorectal, bile duct, pancreatic, breast, and thyroid cancers, with varying frequencies.
- Mutations in RII, k-ras, and p53 genes were identified in specific cancer types, with k-ras mutations notably frequent in gallbladder and bile duct cancers.
- Colorectal cancers showed a higher incidence of multiple genetic alterations compared to breast cancers, suggesting distinct molecular pathways.
Impact:
- The study indicates that the investigated genetic alterations play a minor role in cancer development, emphasizing the need to identify additional cancer-related genes.
- Findings suggest organ specificity in genetic alterations, contributing to a better understanding of cancer's molecular basis.
- Determining genomic instability and mutations in multiple cancer-related genes is essential for elucidating cancer's molecular mechanisms.