DESCRIPTION:

This gene set summarizes figure 1 and represents the percentage of clinically actionable mutations detected in 20 tumors. The values represent the percentage of tumors with mutations. Gene symbols were converted to HGNC identifiers for data entry.

LABEL:

Clinically Actionable Mutations

SCORE TYPE:

Effect

DATE ADDED:

2017-08-09

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Dillon JL, Mockus SM, Ananda G, Spotlow V, Wells WA, Tsongalis GJ, Marotti JD

TITLE:

Somatic gene mutation analysis of triple negative breast cancers.

JOURNAL:

Breast (Edinburgh, Scotland) Oct 2016, Vol 29, pp. 202-7

ABSTRACT:

The aims of this study were to analyze triple negative breast cancer (TNBC) using an expanded next generation sequencing (NGS) assay, assess the clinical relevance using a recently described database, and correlate tumor morphology with detected genetic alterations.DNA was isolated from twenty primary TNBCs and genes of interest were enriched and sequenced with hybrid capture, followed by variant detection and functional and clinical annotation. The JAX-CTP™ assay detects actionable variants in the form of single nucleotide variations, small insertions and deletions (≤50 bp), and copy number variants in 358 genes in specimens containing a neoplastic cell content of ≥50%. The JAX-CKB is a comprehensive database that curates tumor phenotype, genetic variant and protein effect, therapeutic relevance, and available treatment options.18/20 (90%) of TNBCs contained at least one somatic mutation detected by the JAX-CTP™. MYC amplification was the most common alteration, present in 75% of tumors. TP53, AURKA, and KDR mutations were each present in 30% (6/20) of cases. Related recruiting clinical trials, extracted from JAX-CKB, included 166 for breast cancer, of which 17 were specific to only the TNBC subtype. All 17 trials were testing at least one therapy that targets a mutation identified in this sample set. The majority (89%) of tumors with basal-like histologic features had MYC amplification.The expanded gene panel identified a variety of clinically actionable gene alterations in TNBCs. The identification of such variants increases the possibility for new therapeutic interventions and clinical trial eligibility for TNBC patients. PUBMED: 27397723
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