ArticleCancer discovery2016
A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
Article in Cancer discovery, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Epidemiological Evidence for Associations Between Genetic Variants and Osteosarcoma Susceptibility: A Meta-Analysis.Frontiers in oncology · 2022Pooled it
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Genomic landscape of ERCC alterations in breast and gynecological cancers: implications for targeted therapy and VUS reclassification.Molecular biology reports · 2026Article
- Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.JCO precision oncology · 2026Article
- ERCC3 serves as a prognostic biomarker for hepatocellular carcinoma and positively regulates cell proliferation and migration.Discover oncology · 2025Article
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- Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus onFrontiers in genetics · 2024Article
- Bioinformatics analysis of ERCC family in pan-cancer and ERCC2 in bladder cancer.Frontiers in immunology · 2024Article
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- Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma.Scientific reports · 2023Article
- Association of ERCC family mutations with prognosis and immune checkpoint inhibitors response in multiple cancers.Scientific reports · 2023Article
- Comprehensive analysis of ERCC3 prognosis value and ceRNA network in AML.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Article
- Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.Genome medicine · 2022Article
- A Preclinical Study to Repurpose Spironolactone for Enhancing Chemotherapy Response in Bladder Cancer.Molecular cancer therapeutics · 2022Article
- Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- Targeting Germline- and Tumor-Associated Nucleotide Excision Repair Defects in Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Genome-editing approaches and applications: a brief review on CRISPR technology and its role in cancer.3 Biotech · 2021Review
- A Population-Based Study of Genes Previously Implicated in Breast Cancer.The New England journal of medicine · 2021Article
Corrections and comments
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Authors and funding
30 authors at 11 institutions in 3 countries.
Funding
Abstract
Known gene mutations account for approximately 50% of the hereditary risk for breast cancer. Moderate and low penetrance variants, discovered by genomic approaches, account for an as-yet-unknown proportion of the remaining heritability. A truncating mutation c.325C>T:p.Arg109* (R109X) in the ATP-dependent helicase ERCC3 was observed recurrently among exomes sequenced in BRCA wild-type, breast cancer-affected individuals of Ashkenazi Jewish ancestry. Modeling of the mutation in ERCC3-deficient or CRISPR/Cas9-edited cell lines showed a consistent pattern of reduced expression of the protein and concomitant hypomorphic functionality when challenged with UVC exposure or treatment with the DNA alkylating agent IlludinS. Overexpressing the mutant protein in ERCC3-deficient cells only partially rescued their DNA repair-deficient phenotype. Comparison of frequency of this recurrent mutation in over 6,500 chromosomes of breast cancer cases and 6,800 Ashkenazi controls showed significant association with breast cancer risk (OR SIGNIFICANCE: A functionally significant recurrent ERCC3 mutation increased the risk for breast cancer in a genetic isolate. Mutated cell lines showed lower survival after in vitro exposure to DNA-damaging agents. Thus, similar to tumors arising in the background of homologous repair defects, mutations in nucleotide excision repair genes such as ERCC3 could constitute potential therapeutic targets in a subset of hereditary breast cancers. Cancer Discov; 6(11); 1267-75. ©2016 AACR.This article is highlighted in the In This Issue feature, p. 1197.
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Registered trials
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