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Concordance of genomic alterations between primary and recurrent breast cancer

Funda Meric-Bernstam1, Garrett M Frampton, Jaime Ferrer-Lozano

  • 1Authors' Affiliations: Departments of Investigational Cancer Therapeutics, Surgical Oncology, Bioinformatics and Computational Biology, Pathology, Systems Biology, and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas; Foundation Medicine, Cambridge, Massachusetts; Albany Medical College, Albany, New York; Fundacion para la Investigacion; Departments of Hematology-Oncology and Pathology, Hospital Clinico Universitario de Valencia; and INCLIVA Biomedical Research Institute, Valencia, Spain.

Molecular Cancer Therapeutics
|March 11, 2014
PubMed

Insights

Genomic profiling reveals actionable alterations in most breast cancers, with high concordance between primary and recurrent tumors. Analyzing recurrences offers insights for targeted therapy, as both gains and losses of targets are observed.

Area of Science:

  • Oncology
  • Genomics
  • Cancer Therapy

Background:

  • Growing interest in personalized cancer treatment based on genomic information.
  • Understanding genomic alterations in breast cancer is crucial for effective therapy.

Purpose of the Study:

  • To determine the concordance of genomic alterations between primary and recurrent breast cancer.
  • To identify actionable genomic alterations for targeted treatment options.

Main Methods:

  • Targeted next-generation sequencing of 182 cancer-related genes.
  • Analysis of point mutations, indels, copy-number alterations (CNA), and rearrangements.
  • Profiling of 74 tumors from 43 patients with matched primary and recurrent samples.

Main Results:

  • High concordance (86.6% for mutations, 85.5% for CNAs) between primary and recurrent tumors.
  • Actionable alterations detected in 93% of patients, guiding targeted treatment.
  • Increased frequency of CDK4/MDM2 amplifications in recurrent tumors.

Conclusions:

  • Deep genomic profiling identifies actionable alterations in most breast cancer patients.
  • High concordance suggests conserved genomic profiles, but recurrent tumors show distinct alterations.
  • Analyzing recurrent tumors can reveal new therapeutic targets and inform treatment strategies.

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