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Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer

  • 0Danish Breast Cancer Group, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
New York +

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March 23, 2025

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March 23, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Genomic profiling in primary metastatic breast cancer (pMBC) reveals targetable mutations. Early genetic analysis can guide personalized treatment strategies for improved patient outcomes.

Area Of Science

  • Oncology
  • Genomics
  • Translational Research

Background

  • Primary metastatic breast cancer (pMBC) presents unique challenges due to genomic heterogeneity.
  • Understanding driver mutations is crucial for developing effective therapies.

Purpose Of The Study

  • To conduct comprehensive gene mapping on pMBC tumors.
  • To identify actionable biomarkers and their association with prognosis.

Main Methods

  • Whole-genome sequencing of 203 pMBC tumor samples.
  • Analysis of tumor mutational burden (TMB), PIK3CA, and TP53 mutations.
  • Statistical analysis correlating genomic alterations with clinical outcomes.

Main Results

  • 65% of tumors harbored actionable biomarkers, with PIK3CA mutations in 39% and TP53 mutations in 33%.
  • TP53 mutations were linked to an increased risk of death (HR: 1.60).
  • High tumor mutational burden (TMB) showed a trend towards poor prognosis but lacked statistical significance after adjustments.

Conclusions

  • pMBC is driven by multiple targetable genetic mutations across subtypes.
  • Genomic profiling is valuable for identifying patients eligible for individualized treatment.
  • TMB may have a reduced prognostic value in this patient group.

Keywords: