ArticleJournal of medical genetics2007
Germline E-cadherin mutations in familial lobular breast cancer.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed.
- Are Broadened Guidelines Improving our Detection of Pathologic Genetic Mutations in Breast Cancer Patients? A 5-Year Comparative Analysis of American Society of Breast Surgeons and National Comprehensive Cancer Network Guidelines.Annals of surgical oncology · 2025Article
- Characterization of the Germline Pathogenic Mutational Landscape and Oncologic Outcomes Among 877 Patients with Invasive Lobular Carcinoma.Annals of surgical oncology · 2025Article
- E-Cadherin-Mediated Cell-Cell Adhesion and Invasive Lobular Breast Cancer.Advances in experimental medicine and biology · 2025Review
- Breast cancer detection employing stacked ensemble model with convolutional features.Cancer biomarkers : section A of Disease markers · 2024Article
- Hereditary Diffuse Gastric Cancer: A 2022 Update.Journal of personalized medicine · 2022Review
- Breast Cancer Detection Using Convoluted Features and Ensemble Machine Learning Algorithm.Cancers · 2022Article
- Extended gene panel testing in lobular breast cancer.Familial cancer · 2022Article
- Review
- Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- Review
- GermlineCancers · 2021Article
- Review
- Breast cancer liver metastasis: current and future treatment approaches.Clinical & experimental metastasis · 2021Review
- Frequency ofCancers · 2021Review
- Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.Cancer research and treatment · 2020Article
- Network-based approaches elucidate differences within APOBEC and clock-like signatures in breast cancer.Genome medicine · 2020Article
- GADD45G Interacts with E-cadherin to Suppress the Migration and Invasion of Esophageal Squamous Cell Carcinoma.Digestive diseases and sciences · 2020Article
- The role of endoscopy in the management of hereditary diffuse gastric cancer syndrome.World journal of gastroenterology · 2019Review
- A random walk-based method to identify driver genes by integrating the subcellular localization and variation frequency into bipartite graph.BMC bioinformatics · 2019Article
- Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe cell surface glycoprotein E-cadherin (CDH1) is a key regulator of adhesive properties in epithelial cells. Germline mutations in CDH1 are well established as the defects underlying hereditary diffuse gastric cancer (HDGC) syndrome, and an increased risk of lobular breast cancer (LBC) has been described in HDGC kindreds. However, germline CDH1 mutations have not been described in patients with LBC in non-HDGC families. This study aimed to investigate the frequency of germline CDH1 mutations in patients with LBC with early onset disease or family histories of breast cancer without DGC.
methodsGermline DNA was analysed in 23 women with invasive lobular or mixed ductal and lobular breast cancers who had at least one close relative with breast cancer or had themselves been diagnosed before the age of 45 years, had tested negative for a germline BRCA1 or BRCA2 mutation, and reported no personal or family history of diffuse gastric cancer. The full coding sequence of CDH1 including splice junctions was amplified using PCR and screened for mutations using DHPLC and sequencing.
resultsA novel germline CDH1 truncating mutation in the extracellular portion of the protein (517insA) was identified in one woman who had LBC at the age of 42 years and a first degree relative with invasive LBC.
conclusionsGermline CDH1 mutations can be associated with invasive LBC in the absence of diffuse gastric cancer. The finding, if confirmed, may have implications for management of individuals at risk for this breast cancer subtype. Clarification of the cancer risks in the syndrome is essential.
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