ArticleJournal of medical genetics2011
Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 82 citations in OpenAlex.
- Invasive lobular carcinoma harboring dual PIK3CA mutations and a CDH1 variant with prominent myxoid stroma: a case report.International journal of clinical and experimental pathology · 2026Article
- What Is Known about Breast Cancer in Young Women?Cancers · 2023Review
- Article
- Frequency ofCancers · 2021Review
- Lobular carcinoma in situ: diagnostic criteria and molecular correlates.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Review
- CDH1 on Multigene Panel Testing: Look Before You Leap.Journal of the National Cancer Institute · 2020Article
- Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a GermlineJournal of Cancer · 2020Article
- Identification of c.1531C>T Pathogenic Variant in theInternational journal of molecular sciences · 2019Article
- The role of endoscopy in the management of hereditary diffuse gastric cancer syndrome.World journal of gastroenterology · 2019Review
- Clinical spectrum and pleiotropic nature ofJournal of medical genetics · 2019Review
- Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.Familial cancer · 2019Review
- E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.Scientific reports · 2018Article
- Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.Oncotarget · 2017Article
- CDH1 germline mutations and hereditary lobular breast cancer.Familial cancer · 2016Review
- miR-544a Promotes Breast Cancer Cell Migration and Invasion Reducing Cadherin 1 Expression.Oncology research · 2016Article
- Is there an association between invasive lobular carcinoma of the breast and a family history of gastric cancer?Familial cancer · 2016Article
- Recognition of and recent issues in hereditary diffuse gastric cancer.Journal of gastroenterology · 2015Review
- Lobular breast cancer: incidence and genetic and non-genetic risk factors.Breast cancer research : BCR · 2015Review
- Invasive lobular carcinoma of the breast: morphology, biomarkers and 'omics.Breast cancer research : BCR · 2015Review
- Next-generation sequencing for inherited breast cancer risk: counseling through the complexity.Current oncology reports · 2014Review
Corrections and comments
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Authors and funding
34 authors at 19 institutions in 4 countries.
Funding
Abstract
backgroundGermline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs excessively in families with such condition.
methodTo determine if CDH1 is a susceptibility gene for lobular breast cancer in women without a family history of diffuse gastric cancer, germline DNA was analysed for the presence of CDH1 mutations in 318 women with lobular breast cancer who were diagnosed before the age of 45 years or had a family history of breast cancer and were not known, or known not, to be carriers of germline mutations in BRCA1 or BRCA2. Cases were ascertained through breast cancer registries and high-risk cancer genetic clinics (Breast Cancer Family Registry, the kConFab and a consortium of breast cancer genetics clinics in the United States and Spain). Additionally, Multiplex Ligation-dependent Probe Amplification was performed for 134 cases to detect large deletions.
resultsNo truncating mutations and no large deletions were detected. Six non-synonymous variants were found in seven families. Four (4/318 or 1.3%) are considered to be potentially pathogenic through in vitro and in silico analysis.
conclusionPotentially pathogenic germline CDH1 mutations in women with early-onset or familial lobular breast cancer are at most infrequent.
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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.