ArticleBMC cancer2022
Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
Article in BMC cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Germline and somatic testing for homologous repair deficiency in patients with prostate cancer (part 1 of 2).Prostate cancer and prostatic diseases · 2025Guideline
- The Impact of Uncommon HRR Alterations as Predictors of Efficacy of PARP Inhibitors in Metastatic Castration-Resistant Prostate Cancer: A Meta-Analysis of Randomized Controlled Trials.Targeted oncology · 2025Pooled it
- Ceralasertib Monotherapy in Patients with ATM-Altered Advanced Solid Tumors or Metastatic Castration-Resistant Prostate Cancer: Data from the Phase IIa PLANETTE Study.Cancer research communications · 2026Trial
- Trastuzumab deruxtecan in HER2-expressing gynecologic cancers from DESTINY-PanTumor02: antitumor activity, safety, and exploratory biomarker analyses.Journal of gynecologic oncology · 2026Trial
- Overall survival with maintenance olaparib in platinum-sensitive relapsed ovarian cancer by somatic or germline BRCA and homologous recombination repair mutation status.British journal of cancer · 2025Trial
- Durvalumab Plus Olaparib in Previously Untreated, Platinum-Ineligible Patients With Metastatic Urothelial Carcinoma: A Multicenter, Randomized, Phase II Trial (BAYOU).Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Trial
- Expanding the therapeutic scope of PARP inhibitors in breast cancer: current indications and future directions.The Journal of clinical investigation · 2026Review
- Cross-cancer homologous recombination deficiency prediction from whole slide images using transfer learning.Scientific reports · 2026Article
- Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis.Journal of clinical medicine · 2026Article
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2026Review
- Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.Cancer science · 2025Article
- Landscape of homologous recombination deficiency in gastric cancer and clinical implications for first-line chemotherapy.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2024Article
- Prediction of homologous recombination deficiency from routine histology with attention-based multiple instance learning in nine different tumor types.BMC biology · 2024Article
- BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?NPJ breast cancer · 2024Review
- Prevalence of homologous recombination biomarkers in multiple tumor types: an observational study.Future oncology (London, England) · 2024Observational
- Differential Sensitivity of Germline and SomaticInternational journal of molecular sciences · 2023Article
- Article
- Direct prediction of Homologous Recombination Deficiency from routine histology in ten different tumor types with attention-based Multiple Instance Learning: a development and validation study.medRxiv : the preprint server for health sciences · 2023Article
- Impact of DNA damage repair alterations on prostate cancer progression and metastasis.Frontiers in oncology · 2023Review
- From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research.Life (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDNA repair deficiencies are characteristic of cancer and homologous recombination deficiency (HRD) is the most common. HRD sensitizes tumour cells to PARP inhibitors so it is important to understand the landscape of HRD across different solid tumour types.
methodsGermline and somatic BRCA mutations in breast and ovarian cancers were evaluated using sequencing data from The Cancer Genome Atlas (TCGA) database. Secondly, a larger independent genomic dataset was analysed to validate the TCGA results and determine the frequency of germline and somatic mutations across 15 different candidate homologous recombination repair (HRR) genes, and their relationship with the genetic events of bi-allelic loss, loss of heterozygosity (LOH) and tumour mutation burden (TMB).
resultsApproximately one-third of breast and ovarian cancer BRCA mutations were somatic. These showed a similar degree of bi-allelic loss and clinical outcomes to germline mutations, identifying potentially 50% more patients that may benefit from precision treatments. HRR mutations were present in sizable proportions in all tumour types analysed and were associated with high TMB and LOH scores. We also identified numerous BRCA reversion mutations across all tumour types.
conclusionsOur results will facilitate future research into the efficacy of precision oncology treatments, including PARP and immune checkpoint inhibitors.
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Registered trials
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.