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Updated: Mar 26, 2026

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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Genotyping of Frequent Mutations in Solid Tumors by PCR-Based Single-Base Extension and MassARRAY Analysis
Alberto Paniz Mondolfi1,2, Rajesh R Singh3
1Microbiology Laboratory, Department of Laboratory Medicine,Yale New Haven Hospital, Yale University School of Medicine, New Haven, CT, USA. albertopanizm@gmail.com.
Methods in Molecular Biology (Clifton, N.J.)
|February 5, 2016
Summary
Cancer genome sequencing has advanced tumor analysis, identifying targetable mutations for personalized medicine. Understanding genomic heterogeneity and using multiplexing are key for effective cancer treatment strategies.
Area of Science:
- Oncology
- Genomics
- Cancer Research
Background:
- Cancer genome sequencing has detailed the genomic landscapes of common solid tumors over the past decade.
- Activating mutations in driver genes are frequently identified, enabling targeted therapies and impacting cancer management.
- Genomic heterogeneity within tumors is a critical factor in genome-based cancer medicine.
Purpose of the Study:
- To highlight the impact of cancer genome sequencing on clinical care.
- To emphasize the importance of understanding tumor genomic heterogeneity.
- To present multiplexing as a preferred approach for analyzing mutational landscapes.
Main Methods:
- Comprehensive analysis of cancer genome sequencing data from common solid tumors.
- Identification of activating mutations in driver genes.
- Application of multiplexing techniques to assess tumor mutational landscapes.
Main Results:
- Detailed genomic landscapes of numerous common solid human tumors have been elucidated.
- Targetable mutations in driver genes are prevalent, significantly influencing treatment decisions.
- Genomic heterogeneity is recognized as a crucial element in personalized cancer therapy.
Conclusions:
- Cancer genome sequencing has revolutionized clinical oncology by enabling targeted therapies.
- Addressing genomic heterogeneity through advanced techniques like multiplexing is essential for optimizing patient treatment strategies.

