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Updated: Jun 22, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Advances in genome analysis of solid tumors]
1Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo.
Abstract:
A number of promising approaches against human cancer become available in the post genome era. For cancer prevention, a series of genome-wide association study is being performed and several SNPs that could predict susceptibility of cancer, including breast and gastric cancers, have been identified successfully. For cancer treatment, growing numbers of molecular-targeting drugs are being challenged, in which inhibitors of EGFR tyrosine kinase, including gefitinib, have been established for treatment of a subset of lung adenocarcinoma. Detection of the specific EGFR mutations is shown to predict response of individual tumors to gefitinib. Mamma-Print, a microarray-based analysis of breast cancer, is also successfully used for predicting response of breast cancer to Herceptin. Molecular targeting therapy in combination with such genome-based analyses could provide effective personalized medicine against human cancer.
Insights
The post-genomic era offers new cancer prevention and treatment strategies. Genome-based analyses combined with molecular therapies enable personalized cancer medicine.
Area of Science:
- Genomics and Bioinformatics
- Oncology
- Molecular Biology
Context:
- The post-genomic era has introduced novel strategies for cancer prevention and treatment.
- Genome-wide association studies (GWAS) identify single nucleotide polymorphisms (SNPs) associated with cancer susceptibility.
- Molecular-targeting drugs are advancing cancer therapy, exemplified by EGFR tyrosine kinase inhibitors.
Purpose:
- To review advancements in genome-based cancer prevention and treatment.
- To highlight the role of genetic biomarkers in predicting treatment response.
- To discuss the potential of personalized medicine in oncology.
Summary:
- Genome-wide association studies have identified SNPs for predicting susceptibility to breast and gastric cancers.
- EGFR mutations predict gefitinib response in lung adenocarcinoma.
- MammaPrint analysis predicts breast cancer response to Herceptin.
- Molecular targeting therapy combined with genome-based analyses offers personalized cancer medicine.
Impact:
- Advances in personalized medicine for cancer treatment.
- Improved prediction of individual patient response to targeted therapies.
- Enhanced strategies for cancer prevention through genetic risk assessment.
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