Significats de actionable mutations en anglès

Molecular analysis of potentially actionable mutations has become routine practice in oncological pathology.

Conclusions: Potentially actionable mutations were identified in the majority of breast cancer metastases.

Conclusions: FNA sequencing is feasible and subsets of patients may harbor actionable mutations that could potentially impact therapy.

Most melanomas had potentially actionable mutations, most in components of the mitogen-activated protein kinase and phosphoinositol kinase pathways.

Mutations were detected for 22 patients, including 19 oncogenic variants and 8 actionable mutations.

N-of-1 trials target actionable mutations, yet such approaches do not test genomically-informed therapies in patient tumor models prior to patient treatment.

Main outcomes and measures: Clinical categorization of somatic mutations; frequencies of deleterious germline mutations related to patient phenotype and incidental medically- actionable mutations.

This study aimed to investigate the utility of next generation sequencing (NGS) in UPS to identify subsets of patients who harbour actionable mutations.

In patients with more than one sequenced tumor sample (n = 146), 84.62% of actionable mutations were concordant.

Conclusions: We found a remarkably high number of clinically actionable mutations in 51% of the patients, and 12% with significant germline mutations.