Exome Analysis (Complexe vs Simple) to Help the Therapeutic Decision for the Precision Medicine

The "simple" analysis of the exome can determine somatic and constitutional mutations. The major challenge lies in the translation of sequencing data into clinically relevant information allowing the clinician to guide his decision-making A "complex" analysis of the exome would provide access to structural DNA data, concerning mutational signatures, tumor mutational load, analysis of large deletions, loss of heterozygosity as well as amplification of certain genes which may have an impact on the management of patients. No data available to date makes it possible to assess the clinical interest of the availability of its additional information resulting from a "complex" analysis compared to a "simple" analysis. The objective of the EXOMA2 study is to assess the proportion of patients for whom the proposed therapy is derived from its additional information (complex analysis) and would not have been possible with a classic exome analysis (simple analysis) . We hereby formulate the hypothesis that a "complex" analysis on a population presenting a metastatic or locally advanced disease treated early (from the 1st line of treatment) will make it possible to determine therapeutic indications which could not be discovered with a "simple" analysis.

This description comes directly from the study's public registry record.

François Ghiringhelli, PU-PH  ·  +33(0)3 80 73 75 00  ·  FGhiringhelli@cgfl.fr

Emilie Rederstorff, PhD  ·  +33(0)3 80 73 75 00  ·  ERederstorff@cgfl.fr

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