ArticleOncotarget2018
Fanconi anemia and homologous recombination gene variants are associated with functional DNA repair defects
Article in Oncotarget, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- DNA Repair, Epigenetic Dysregulation, and Cytokine Network Crosstalk in Head and Neck Cancer: Emerging Therapeutic Opportunities and Clinical Trials.Current oncology reports · 2026Review
- A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer.International journal of molecular sciences · 2024Review
- Phase I feasibility study of Olaparib in combination with loco-regional radiotherapy in head and neck squamous cell carcinoma.Clinical and translational radiation oncology · 2024Article
- The cGAS/STING/IFN-1 Response in Squamous Head and Neck Cancer Cells after Genotoxic Challenges and Abrogation of the ATR-Chk1 and Fanconi Anemia Axis.International journal of molecular sciences · 2023Article
- Microsatellite instability states serve as predictive biomarkers for tumors chemotherapy sensitivity.iScience · 2023Article
- DNA Damage Response Mechanisms in Head and Neck Cancer: Significant Implications for Therapy and Survival.International journal of molecular sciences · 2023Review
- Homologous Recombination Deficiency Scar: Mutations and Beyond-Implications for Precision Oncology.Cancers · 2022Review
- MutatedCells · 2022Article
- Pan-cancer analysis of the prognostic and immunological role of Fanconi anemia complementation group E.Frontiers in genetics · 2022Article
- CloneSig can jointly infer intra-tumor heterogeneity and mutational signature activity in bulk tumor sequencing data.Nature communications · 2021Article
- DNA Damage Response during Replication Correlates with CIN70 Score and Determines Survival in HNSCC Patients.Cancers · 2021Article
- Ovarian cancer-derived copy number alterations signatures are prognostic in chemoradiotherapy-treated head and neck squamous cell carcinoma.International journal of cancer · 2020Article
- Clinical Development of Molecular Targeted Therapy in Head and Neck Squamous Cell Carcinoma.JNCI cancer spectrum · 2019Article
- Study protocols of three parallel phase 1 trials combining radical radiotherapy with the PARP inhibitor olaparib.BMC cancer · 2019Article
- Genetic Factors Associated with a Poor Outcome in Head and Neck Cancer Patients Receiving Definitive Chemoradiotherapy.Cancers · 2019Article
- Biological Determinants of Chemo-Radiotherapy Response in HPV-Negative Head and Neck Cancer: A Multicentric External Validation.Frontiers in oncology · 2019Article
- Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.Frontiers in oncology · 2019Article
- Role of variant allele fraction and rare SNP filtering to improve cellular DNA repair endpoint association.PloS one · 2018Article
- Ginsenoside Rh2 Suppresses the Fanconi Anemia Pathway by Inhibiting NF-κB-Mediated FANCL Transcription in Bladder Cancer.Dose-response : a publication of International Hormesis SocietyArticle
Corrections and comments
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Authors and funding
20 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in Fanconi Anemia or Homologous Recombination (FA/HR) genes can cause DNA repair defects and could therefore impact cancer treatment response and patient outcome. Their functional impact and clinical relevance in head and neck squamous cell carcinoma (HNSCC) is unknown. We therefore questioned whether functional FA/HR defects occurred in HNSCC and whether they are associated with FA/HR variants. We assayed a panel of 29 patient-derived HNSCC cell lines and found that a considerable fraction is hypersensitive to the crosslinker Mitomycin C and PARP inhibitors, a functional measure of FA/HR defects. DNA sequencing showed that these hypersensitivities are associated with the presence of bi-allelic rare germline and somatic FA/HR gene variants. We next questioned whether such variants are associated with prognosis and treatment response in HNSCC patients. DNA sequencing of 77 advanced stage HNSCC tumors revealed a 19% incidence of such variants. Importantly, these variants were associated with a poor prognosis (
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.