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Updated: Jul 13, 2026

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Identification of structural aberrations in cancer by SNP array analysis.
Stefan Heinrichs1, A Thomas Look
1Dana-Farber Cancer Institute, Department of Pediatric Oncology, Binney Street, Boston, MA 02215, USA.
Genome Biology
|August 2, 2007
Summary
Single-nucleotide polymorphism arrays identify new cancer-driving genes. These findings advance our understanding of oncogenes and tumor suppressors in human cancer development.
Area of Science:
- Genetics
- Oncology
Background:
- Cancer development is a complex process involving genetic alterations.
- Identifying key genes in cancer is crucial for developing targeted therapies.
Purpose of the Study:
- To identify novel oncogenes and tumor suppressors implicated in human cancers.
- To leverage advanced genomic technologies for cancer gene discovery.
Main Methods:
- Utilized single-nucleotide polymorphism (SNP) arrays for comprehensive genomic analysis.
- Analyzed genetic variations across different human cancer types.
Main Results:
- Discovered previously unknown oncogenes contributing to cancer.
- Identified novel tumor suppressor genes involved in cancer progression.
- Pinpointed specific genetic alterations associated with distinct cancer subtypes.
Conclusions:
- SNP array analysis is a powerful tool for uncovering cancer-related genes.
- The identified genes represent potential therapeutic targets for human cancers.
- Further research into these novel genes will enhance cancer treatment strategies.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...

