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Related Concept Videos

Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genome-wide Association Studies-GWAS

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DNA Microarrays02:34

DNA Microarrays

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Next-generation Sequencing03:00

Next-generation Sequencing

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Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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Related Experiment Video

Updated: Jun 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Observed RET-Positive Findings Across Routine Comprehensive Genomic Profiling Platforms in Japan: A Nationwide

Shinya Kajiura1, Ryuji Hayashi1

  • 1Department of Medical Oncology and Palliative Medicine, Toyama University Hospital, Toyama 930-0194, Japan.

Cancers
|June 12, 2026
PubMed
Summary

This study analyzed RET fusion frequency in Japanese cancer patients using comprehensive genomic profiling (CGP). Observed frequencies varied by testing platform and tumor type, highlighting the need for platform-aware interpretation of RET fusion results.

Keywords:
C-CATRET fusioncancer genomic medicinecomprehensive genomic profilingliquid biopsyplatform heterogeneityprecision oncologyreal-world datatumor-agnostic biomarker

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Published on: April 11, 2016

Area of Science:

  • Oncology
  • Genomics
  • Biomarker Discovery

Background:

  • RET fusion is a key actionable biomarker in cancer treatment.
  • Its detection rate in routine comprehensive genomic profiling (CGP) can differ based on testing platforms and clinical settings.
  • Understanding these variations is crucial for effective clinical application.

Purpose of the Study:

  • To benchmark the observed frequency of RET fusions in Japanese routine practice using nationwide data.
  • To analyze RET fusion frequencies across different CGP platforms and tumor types.
  • To compare frequencies between tissue-based and liquid-based CGP.

Main Methods:

  • Retrospective analysis of anonymized aggregated data from the Center for Cancer Genomics and Advanced Therapeutics (C-CAT).
  • Inclusion of cases tested via CGP up to March 31, 2025.
  • Summarization of RET fusion frequency overall, by five CGP platforms, 12 organ groups, and tissue vs. liquid testing.
  • Calculation of exact binomial 95% confidence intervals for precision.

Main Results:

  • An overall RET fusion frequency of 0.26% (257/97,343) was observed.
  • Frequencies varied by platform, ranging from 0.10% to 0.29%.
  • Thoracic tumors (1.39%) and head and neck/thyroid tumors (1.04%) showed higher frequencies.
  • Tissue-based and liquid-based CGP showed similar crude pooled frequencies (0.265% vs. 0.260%).

Conclusions:

  • The nationwide analysis provides benchmarks for RET-positive findings in Japanese routine CGP.
  • Results emphasize the importance of platform-aware interpretation of RET fusion test results.
  • The findings are descriptive of observed frequencies, not estimates of biologic prevalence or comparative assay performance.