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Genomic sequencing of only tumor tissue could be misleading in nearly half of patients, study shows

BMJ 2015; 350 doi: (Published 16 April 2015) Cite this as: BMJ 2015;350:h2036
  1. Michael McCarthy
  1. 1Seattle

Clinicians who rely on genomic analysis of only a patient’s tumor tissue to guide cancer therapy could be misled by the presence of harmless mutations that are also present in the patient’s normal germline cells and are unrelated to the cancer, a study published in Science Translational Medicine has found.1

Increasingly, it has become standard practice to perform genomic sequencing of tumor tissue to identify cancer-causing mutations responsible for tumor development and growth. Of particular interest to clinicians are “actionable genes” whose presence can help identify the …

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