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Genetic alterations in sporadic triple negative breast cancer

Laura-Ancuta Pop1, Roxana-Maria Cojocneanu-Petric2, Valentina Pileczki2

  • 1Research Center for Functional Genomics, Biomedicine and Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Cluj, Romania; Department of Functional Genomics and Experimental Pathology, The Oncology Institute "Prof. Dr. I Chiricuta", Cluj-Napoca, Cluj, Romania.

Breast (Edinburgh, Scotland)
|December 5, 2017
PubMed
Abstract

Insights

This study identified gene mutations in triple-negative breast cancer (TNBC) patients, revealing associations between BRCA1/2 mutations and poor prognosis. Novel mutations were also discovered, offering potential targets for future gene-targeted therapies.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Triple-negative breast cancer (TNBC) presents therapeutic limitations due to poorly understood genetic underpinnings.
  • Identifying specific gene mutation profiles is crucial for understanding TNBC's aggressive nature and resistance to treatment.

Purpose of the Study:

  • To employ Next Generation Sequencing (NGS) to analyze 46 cancer-associated genes in TNBC patients.
  • To discover novel genetic markers for developing targeted adjuvant therapies for TNBC.

Main Methods:

  • Next Generation Sequencing (NGS) was performed on a cohort of TNBC patients.
  • Analysis focused on 46 genes with established roles in cancer development and progression.

Main Results:

  • 118 mutations across 35 genes were identified, including 75 in BRCA1 and 92 in BRCA2.
  • TP53, KDR, PIK3CA, ATM, AKT1, and KIT were frequently mutated. Mutations in AKT1, TP53, KDR, KIT, BRCA1, and BRCA2 correlated with poor prognosis.
  • A specific PIK3CA SNP (rs3729687) was found to be a damaging mutation associated with TNBC prognosis.

Conclusions:

  • A strong link exists between TNBC, BRCA1/2 gene mutations, and adverse patient outcomes.
  • Several novel mutations, previously unassociated with breast cancer, were identified and may contribute to TNBC's poor prognosis.
  • These findings highlight potential new targets for precision medicine in TNBC treatment.
Keywords:
BRCA1/2 mutationsNext generation sequencingPrecision medicineResistance to therapySomatic mutationTriple negative breast cancer

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