ArticleFrontiers in oncology2021
Disease Spectrum of Breast Cancer Susceptibility Genes.
Article in Frontiers in oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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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
8 citing papers in PubMed.
- Review
- Bridging molecular insights and clinical application: non-coding RNAs, targeted drug delivery, and metastatic breast cancer therapy.Discover oncology · 2025Review
- Germline mutation profiling of breast cancer patients using a non-BRCA sequencing panel.Frontiers in bioinformatics · 2025Article
- Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.Healthcare (Basel, Switzerland) · 2022Article
- Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.Genome medicine · 2022Article
- Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles.Journal of translational medicine · 2022Article
- Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis.JMIR cancer · 2021Article
- Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.Cancer genomics & proteomicsObservational
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic variants in cancer susceptibility genes can increase the risk of a spectrum of diseases, which clinicians must manage for their patients. We evaluated the disease spectrum of breast cancer susceptibility genes (BCSGs) with the aim of developing a comprehensive resource of gene-disease associations for clinicians.
methodsTwelve genes (
resultsForty-two diseases were found to be associated with one or more of the 12 BCSGs for a total of 86 gene-disease associations, of which 90% (78/86) were verified by ClinGen and/or NCCN. Four gene-disease associations could not be verified by either ClinGen or NCCN but were verified by at least three of the other four genetic resources. Four gene-disease associations were verified by the NLP procedure alone.
conclusionThis study is unique in that it systematically investigates the reported disease spectrum of BCSGs by surveying multiple genetic resources and the literature with the aim of developing a single consolidated, comprehensive resource for clinicians. This innovative approach provides a general guide for evaluating gene-disease associations for BCSGs, potentially improving the clinical management of at-risk individuals.
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