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Updated: Mar 24, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

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Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology

Maider Ibarrola-Villava1, Tania Fleitas1, Marta J Llorca-Cardeñosa1

  • 1Hematology and Medical Oncology Unit, Biomedical Research Institute INCLIVA, Valencia, Spain.

Oncotarget
|March 13, 2016
PubMed

Insights

Somatic mutation analysis in advanced solid tumors identified actionable oncogene mutations in 49.2% of patients. MassARRAY technology effectively guides personalized therapy selection for cancer patients.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Somatic mutation analysis is crucial for personalized cancer therapy.
  • Identifying actionable oncogene mutations aids in selecting targeted treatments for advanced solid tumors.

Purpose of the Study:

  • To assess the prevalence of common genetic events in actionable oncogenes.
  • To evaluate MassARRAY technology for mutation profiling in patients eligible for targeted therapies.

Main Methods:

  • Analysis of 238 mutations across 19 oncogenes in 197 formalin-fixed paraffin-embedded tumor samples.
  • Utilized OncoCarta Panel v1.0 (Sequenom) for MassARRAY analysis.
  • Validated mutation profiles with a customized panel and Next-Generation Sequencing (GS-Junior 454, Roche).

Main Results:

  • 49.2% (97/197) of patients had at least one mutation.
  • KRAS (41.2%) and PIK3CA (30.9%) were the most frequent mutations.
  • 32.0% of patients with mutations had alterations in two genes, predominantly in colorectal cancer cases (64.5%).

Conclusions:

  • MassARRAY technology is a rapid and effective method for detecting key cancer-driving mutations.
  • Molecular characterization enables appropriate patient selection for personalized therapies.
  • 28.0% of patients received targeted treatments or entered clinical trials based on molecular findings.
Keywords:
oncocartapersonalized medicinesomatic oncogene mutations

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