Data resources for the identification and interpretation of actionable mutations by clinicians

Area of Science:

• Genomic medicine
• Cancer genomics
• Bioinformatics

Background:

• Global initiatives aim to identify cancer genomic aberrations for diagnostic, prognostic, and predictive insights.
• The functional and clinical relevance of many somatic variants in cancer remains largely unknown.
• A lack of consensus definition for 'actionability' of genomic aberrancies complicates clinical interpretation.

Purpose of the Study:

• To review data resources for identifying and interpreting actionable genomic aberrations in cancer.
• To highlight challenges in the clinical application of tumor molecular profiling.
• To facilitate the translation of genomic findings into clinical action.

Main Methods:

• Review of publicly accessible data resources compiling evidence on genomic variations.
• Integration of clinical and preclinical data on variant frequencies, functions, and therapeutic targets.
• Curation of published literature and data sharing from the scientific community.

Main Results:

• Numerous data resources exist to aid in understanding genomic results.
• These resources integrate data from population genomics, literature, and community sharing.
• Challenges remain in assessing and integrating diagnostic, prognostic, and predictive information from somatic variants.

Conclusions:

• Interpreting the clinical relevance of cancer genomic aberrations is a significant challenge.
• Data resources can facilitate the understanding of actionable genomic alterations.
• Improved guidance is needed for assessing and integrating variant information for clinical decision-making.