ArticleDiagnostic pathology2024
A novel targeted NGS panel identifies numerous homologous recombination deficiency (HRD)-associated gene mutations in addition to known BRCA mutations.
Article in Diagnostic pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 13 citations in OpenAlex.
- Exploring Molecular Signature and Prognostic Biomarkers in Ovarian Cancer: Insights From Late-Stage, Recurrent, and Metastatic Tumors.Biotechnology and applied biochemistry · 2026Article
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- Integrative phosphoproteomic network analysis identifies CAMK2D as a shared regulator of TPD52 family proteins in cancer.Protoplasma · 2026Article
- Functional footprints of homologous recombination deficiency in prostate cancer revealed by ctDNA fragmentation and transcription factor accessibility.British journal of cancer · 2026Article
- Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort.Communications medicine · 2026Article
- PARP inhibitor maintenance in first-line ovarian cancer therapy: emerging standards and strategies to overcome resistance.American journal of cancer research · 2026Review
- Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.BMC cancer · 2025Article
- Review
- Next-Generation Sequencing in Oncology-A Guiding Compass for Targeted Therapy and Emerging Applications.International journal of molecular sciences · 2025Review
- Asian Society of Gynecologic Oncology (ASGO) 2024 Annual Meeting in Bali, Indonesia.Journal of gynecologic oncology · 2025Article
- Personality traits of women with hereditary risk for breast/ovarian cancer versus obstetric history and cancer preventive behaviors.Scientific reports · 2025Article
- Molecular Basis of Breast Tumor Heterogeneity.Advances in experimental medicine and biology · 2025Review
- Early Breast Cancer Risk Assessment: Integrating Histopathology with Artificial Intelligence.Cancers · 2024Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
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Abstract
Deleterious mutations in the BRCA1 and BRCA2 genes have significant therapeutic relevance in clinical settings regarding personalized therapy approaches. BRCA1 and BRCA2 play a pivotal role in homologous recombination (HR) and thus are sensitive for PARP inhibitors (PARPi). Beyond the narrow scope of evaluating only the BRCA mutation status, PARPi can be beneficial for HR deficient (HRD) patients, who harbor mutations in other HR-associated genes. In the present retrospective study, a novel targeted HRD gene panel was validated and implemented for use with FFPE tissue. Samples of patients with ovarian, breast, pancreatic and prostate cancer were included. Variants were robustly detected with various DNA input amounts and the use of test samples showed complete concordance between previously known mutations and HRD panel results. From all the 90 samples included in this cohort, TP53 was the most frequently altered gene (73%). Deleterious BRCA1/2 mutations were found in 20 (22%) of all samples. New pathogenic or likely pathogenic mutations in additional HR-associated genes were identified in 22 (24%) patients. Taken together, the present study proves the feasibility of a new HRD gene panel with reliable panel performance and offers the possibility to easily screen for resistance mutations acquired over treatment time.Mutations in HR-associated genes, besides BRCA1/2, might represent promising potential targets for synthetic lethality approaches. Thus, a substantial number of patients may benefit from expanding the scope of therapeutic agents like PARPi.
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