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A comparison of methods for EGFR mutation testing in non-small cell lung cancer.

Diagn Mol Pathol

December 2013

*Molecular Genetics Department, Royal Devon and Exeter NHS Trust, Exeter †Molecular Genetics, Institute of Medical Genetics, Cardiff and Vale NHS Trust, Cardiff, Wales ‡Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford §Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Wiltshire ∥Bristol Genetics Laboratory, Southmead Hospital, Bristol ¶Department of Pathology, Warwick Medical School, University Hospitals Coventry and Warwickshire, Coventry #Regional Molecular Genetics Service, Genetic Medicine (6th Floor), St Mary's Hospital, Manchester **Molecular Diagnostics, Royal Surrey County Hospital ‡‡Molecular Diagnostics, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Surrey ††Molecular Malignancy Laboratory, Department of Histopathology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust ∥∥Horizon Discovery Ltd., Waterbeach, Cambridge §§Sheffield Diagnostic Genetics Service, Sheffield, UK.

Article Synopsis
  • - The study aimed to compare different methods for detecting EGFR mutations in tumor samples from patients with non-small cell lung cancer, as these mutations help predict responses to specific treatments.
  • - Eleven laboratories tested coded samples with mutation levels ranging from 0% to 15%, focusing on two key mutations, p.L858R and c.2235_2249del, which are common in about 90% of mutation-positive cases.
  • - Results showed that various techniques like Sanger sequencing and pyrosequencing had better sensitivity than previously reported levels, with a 96% detection rate for samples containing at least 5% mutated DNA, indicating that multiple testing methods are effective for identifying EGFR mutations.
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