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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Tobias Berg¹, Lise Ahlborn², Maj-Britt Jensen³

¹Danish 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.

Neoplasia (New York, N.Y.)

|March 23, 2025

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.

Keywords:

Breast cancer Genomics Metastatic

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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.