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Related Concept Videos

The Ras Gene02:38

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The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing.

Kazuko Sakai1, Junji Tsurutani2, Takeharu Yamanaka3

  • 1Department of Genome Biology, Kinki University Faculty of Medicine, Osaka-Sayama, Osaka, Japan.

Plos One
|May 9, 2015
PubMed
Summary
This summary is machine-generated.

An extended RAS and BRAF mutation assay using next-generation sequencing effectively detects clinically relevant mutations in colorectal cancer, showing high concordance and utility in both tissue and plasma samples for personalized treatment strategies.

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Diagnostics

Background:

  • Somatic mutations in KRAS, NRAS, and BRAF genes are critical biomarkers for predicting resistance to anti-EGFR antibody therapy in colorectal cancer (CRC).
  • Accurate and sensitive detection of these mutations is essential for guiding treatment decisions and improving patient outcomes.

Purpose of the Study:

  • To establish and validate an extended RAS and BRAF mutation assay utilizing next-generation sequencing (NGS) for comprehensive analysis of these key genes in CRC.
  • To assess the clinical utility of the developed NGS assay in formalin-fixed, paraffin-embedded (FFPE) tumor tissues and plasma samples.

Main Methods:

  • Multiplexed deep sequencing was employed to detect somatic mutations in KRAS, NRAS, and BRAF, including low-frequency variants.
  • The assay's technical performance was validated using normal DNA and FFPE tumor samples.
  • A variant calling approach based on Poisson distribution was implemented to define mutation-positive status with a stringent significance level (α = 2 x 10⁻⁵).

Main Results:

  • The NGS assay successfully profiled 100 FFPE CRC tumor samples and 15 plasma samples.
  • Mutations in KRAS, NRAS, or BRAF were detected in 59% of the FFPE tumor specimens.
  • High concordance (92%) was observed between the NGS assay and Scorpion-ARMS for KRAS mutation detection.
  • KRAS and BRAF mutations were identified in both plasma and tissue from 6 patients, demonstrating the assay's applicability to liquid biopsies.

Conclusions:

  • The established extended RAS and BRAF mutation assay using NGS is a validated and robust method for detecting clinically relevant mutations in CRC.
  • The assay demonstrates significant potential for clinical utility, enabling comprehensive genetic screening in both FFPE tissues and liquid samples for personalized cancer therapy.