ArticleNPJ precision oncology2024
Genomic and epigenomic basis of breast invasive lobular carcinomas lacking CDH1 genetic alterations.
Article in NPJ precision oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Comparative Transcriptomics Suggests that Breast Secretory Epithelium Reuses Gene Repertoires Conserved Across Vertebrates Beyond Mammals.Genome biology and evolution · 2026Article
- Restoration of E-cadherin Expression Alters Metastatic Organotropism in Invasive Lobular Breast Carcinoma Models.bioRxiv : the preprint server for biology · 2026Article
- The Complex Path from Mammary Ductal Hyperplasia to Breast Cancer: Elevated Malignancy Risk in Atypical Forms.Biomedicines · 2026Review
- Epigenetic modulation of CTCs as a novel therapeutic target in oncology.Molecular and cellular biochemistry · 2026Review
- Personalized ctDNA detection and genomic profiling in the NeoRHEA Study.NPJ breast cancer · 2025Article
- Review
- Pitfalls in the Histological Diagnosis of Morphologic Variants of Invasive Lobular Carcinoma of the Breast.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Review
- E-cadherin staining in the diagnosis of lobular versus ductal neoplasms of the breast: the emperor has no clothes.Histopathology · 2025Review
- Review
- Unraveling complexity and leveraging opportunities in uncommon breast cancer subtypes.NPJ breast cancer · 2025Review
- Molecular Basis of Breast Tumor Heterogeneity.Advances in experimental medicine and biology · 2025Review
- Insights into E-Cadherin Impairment inInternational journal of molecular sciences · 2024Article
- CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation.Virchows Archiv : an international journal of pathology · 2024Article
- Case report: Characterization of the immunologic and molecular landscape in a unique presentation of invasive lobular carcinoma with concurrent uterine carcinosarcoma treated with immunotherapy.Frontiers in immunology · 2024Article
Corrections and comments
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Authors and funding
26 authors at 2 institutions in 1 country.
Funding
Abstract
CDH1 (E-cadherin) bi-allelic inactivation is the hallmark alteration of breast invasive lobular carcinoma (ILC), resulting in its discohesive phenotype. A subset of ILCs, however, lack CDH1 genetic/epigenetic inactivation, and their genetic underpinning is unknown. Through clinical targeted sequencing data reanalysis of 364 primary ILCs, we identified 25 ILCs lacking CDH1 bi-allelic genetic alterations. CDH1 promoter methylation was frequent (63%) in these cases. Targeted sequencing reanalysis revealed 3 ILCs harboring AXIN2 deleterious fusions (n = 2) or loss-of-function mutation (n = 1). Whole-genome sequencing of 3 cases lacking bi-allelic CDH1 genetic/epigenetic inactivation confirmed the AXIN2 mutation and no other cell-cell adhesion genetic alterations but revealed a new CTNND1 (p120) deleterious fusion. AXIN2 knock-out in MCF7 cells resulted in lobular-like features, including increased cellular migration and resistance to anoikis. Taken together, ILCs lacking CDH1 genetic/epigenetic alterations are driven by inactivating alterations in other cell adhesion genes (CTNND1 or AXIN2), endorsing a convergent phenotype in ILC.
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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.