ArticleThe Journal of pathology2017
Bi-allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer.
Article in The Journal of pathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 70 citations in OpenAlex.
- Increased Synthetic Cytotoxicity of Combinatorial Chemoradiation Therapy in Homologous Recombination Deficient Tumors.International journal of radiation oncology, biology, physics · 2025Trial
- Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer.Nature communications · 2020Trial
- Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers.Discover oncology · 2026Article
- Homologous recombination pathway alterations in basal-like breast cancer.Frontiers in oncology · 2026Review
- Probabilistic modeling of cell cycle dynamics in response to cell cycle targeting chemotherapy drugs to guide treatment strategies.PLoS computational biology · 2025Article
- Comprehensive assessment of homologous recombination deficiency via simultaneous methylation and mutation analysis in epithelial ovarian cancer: implications for PARP inhibitors efficacy.Biomarker research · 2025Article
- Homologous recombination deficiency among patients with germline or somatic non-BRCA1/2 homologous recombination repair gene variations.NPJ precision oncology · 2025Article
- AlphaMissense for Identifying Pathogenic Missense Mutations in DNA Damage Repair Genes in Cancer.JCO precision oncology · 2025Article
- The impact of homologous recombination deficiency on the prognosis of epithelial ovarian cancer.Clinical and translational medicine · 2025Article
- Synthetic lethal strategies for the development of cancer therapeutics.Nature reviews. Clinical oncology · 2025Review
- Targeting the HECTD3-p62 axis increases the radiosensitivity of triple negative breast cancer cells.Cell death discovery · 2024Article
- Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome.Journal of gynecologic oncology · 2023Article
- Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.Breast cancer research : BCR · 2023Article
- Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel.The Journal of molecular diagnostics : JMD · 2023Article
- RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Templated Insertions Are Associated Specifically with BRCA2 Deficiency and Overall Survival in Advanced Ovarian Cancer.Molecular cancer research : MCR · 2022Article
- PARP Inhibitors: A Major Therapeutic Option in Endocrine-Receptor Positive Breast Cancers.Cancers · 2022Review
- Pathogenesis of Triple-Negative Breast Cancer.Annual review of pathology · 2022Review
- Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.Frontiers in oncology · 2022Article
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
Corrections and comments
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Authors and funding
24 authors at 3 institutions in 1 country.
Funding
Abstract
Homologous recombination (HR) DNA repair-deficient (HRD) breast cancers have been shown to be sensitive to DNA repair targeted therapies. Burgeoning evidence suggests that sporadic breast cancers, lacking germline BRCA1/BRCA2 mutations, may also be HRD. We developed a functional ex vivo RAD51-based test to identify HRD primary breast cancers. An integrated approach examining methylation, gene expression, and whole-exome sequencing was employed to ascertain the aetiology of HRD. Functional HRD breast cancers displayed genomic features of lack of competent HR, including large-scale state transitions and specific mutational signatures. Somatic and/or germline genetic alterations resulting in bi-allelic loss-of-function of HR genes underpinned functional HRD in 89% of cases, and were observed in only one of the 15 HR-proficient samples tested. These findings indicate the importance of a comprehensive genetic assessment of bi-allelic alterations in the HR pathway to deliver a precision medicine-based approach to select patients for therapies targeting tumour-specific DNA repair defects. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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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.