lunes, 4 de febrero de 2013

DNA-mutation Inventory to Refine and Enhance... [Clin Cancer Res. 2013] - PubMed - NCBI

DNA-mutation Inventory to Refine and Enhance... [Clin Cancer Res. 2013] - PubMed - NCBI

Clin Cancer Res. 2013 Jan 23. [Epub ahead of print]

DNA-mutation Inventory to Refine and Enhance Cancer Treatment (DIRECT): A catalogue of clinically relevant cancer mutations to enable genome-directed cancer therapy.


Hematology/Oncology, Vanderbilt University.


Background: Tumor gene mutation status is becoming increasingly important in the treatment of cancer patients. A comprehensive catalogue of tumor gene-response outcomes from individual patients is needed, especially for actionable mutations and rare variants. We created a proof-of-principle database (DNA-mutation Inventory to Refine and Enhance Cancer Treatment; (DIRECT)), starting with lung cancer-associated epidermal growth factor receptor (EGFR) mutations, to provide a resource for clinicians to prioritize treatment decisions based on a patient's tumor mutations at the point of care.¬ Methods: A systematic search of literature published between June 2005 and May 2011 was conducted through PubMed to identify patient-level, mutation-drug response in non-small cell lung cancer (NSCLC) patients with EGFR mutant tumors. Minimum inclusion criteria included patient's EGFR mutation, corresponding treatment, and an associated radiographic outcome. RESULTS: 1021 patients with 1070 separate EGFR TKI therapy-responses from 116 different publications were included. 188 unique EGFR mutations occurring in 207 different combinations were identified: 149 different mutation combinations were associated with disease control, and 42 were associated with disease progression. 4 secondary mutations, in 16 different combinations, were associated with acquired resistance. CONCLUSIONS: As tumor sequencing becomes more common in oncology, this comprehensive electronic catalogue can enable genome-directed anti-cancer therapy. DIRECT will eventually encompass all tumor mutations associated with clinical outcomes on targeted therapies. Users can make specific queries at to obtain clinically relevant data associated with various mutations.
[PubMed - as supplied by publisher]

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