Real-World Analysis of HRD Assay Variability in High-Grade Serous Ovarian Cancer: Impacts of BRCA1/2 Mutation Subtypes on HRD Assessment DOI Creative Commons
Giovanni Luca Scaglione, Valentina Lombardo, Maurizio Polano

et al.

Biomolecules, Journal Year: 2025, Volume and Issue: 15(5), P. 745 - 745

Published: May 21, 2025

The HRD (Homologous Recombination Deficiency) test is considered a genomic alteration useful for guiding therapeutic decisions in patients with ovarian cancer. Some commercial and house alternative “academic” tests are available. Recent findings indicate that not all BRCA1/2 mutations determine the magnitude of some carrying may exhibit indeterminate or even negative scores. Furthermore, certain therapies (e.g., olaparib bevacizumab) offer particularly pronounced benefits high-grade serous cancer (HGSOC) harboring DNA-binding domain (DBD) BRCA1/2. aim present study to investigate relationship between scores status 51 HGSOC (50 mutated 1 wild type). was assessed by means shallow whole-genome sequencing NGS pipeline. We did find correlation type alterations. A strong score age found. Our paper underlines need introduce other biological factors within algorithms evaluation order better tailor status, harmonize metrics assessment, personalize therapies.

Language: Английский

Real-World Analysis of HRD Assay Variability in High-Grade Serous Ovarian Cancer: Impacts of BRCA1/2 Mutation Subtypes on HRD Assessment DOI Creative Commons
Giovanni Luca Scaglione, Valentina Lombardo, Maurizio Polano

et al.

Biomolecules, Journal Year: 2025, Volume and Issue: 15(5), P. 745 - 745

Published: May 21, 2025

The HRD (Homologous Recombination Deficiency) test is considered a genomic alteration useful for guiding therapeutic decisions in patients with ovarian cancer. Some commercial and house alternative “academic” tests are available. Recent findings indicate that not all BRCA1/2 mutations determine the magnitude of some carrying may exhibit indeterminate or even negative scores. Furthermore, certain therapies (e.g., olaparib bevacizumab) offer particularly pronounced benefits high-grade serous cancer (HGSOC) harboring DNA-binding domain (DBD) BRCA1/2. aim present study to investigate relationship between scores status 51 HGSOC (50 mutated 1 wild type). was assessed by means shallow whole-genome sequencing NGS pipeline. We did find correlation type alterations. A strong score age found. Our paper underlines need introduce other biological factors within algorithms evaluation order better tailor status, harmonize metrics assessment, personalize therapies.

Language: Английский

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