ArticleBreast cancer research : BCR2001
Low frequency of E-cadherin alterations in familial breast cancer.
Article in Breast cancer research : BCR, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2012Pooled it
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- Disseminated breast cancer cells acquire a highly malignant and aggressive metastatic phenotype during metastatic latency in the bone.PloS one · 2012Article
- Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.Journal of medical genetics · 2011Article
- Expression of E-Cadherin in breast carcinomas and its association with other biological markers - a prospective study.Indian journal of surgical oncology · 2010Article
- Hereditary diffuse gastric cancer: association with lobular breast cancer.Familial cancer · 2008Review
- Germline E-cadherin mutations in familial lobular breast cancer.Journal of medical genetics · 2007Article
- CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer.Annals of surgery · 2007Article
- A hypothesis-generating search for new genetic breast cancer syndromes--a national study in 803 Swedish families.Hereditary cancer in clinical practice · 2007Article
- Immunohistochemical expression in male breast cancer: two case reports.The Kaohsiung journal of medical sciences · 2006Article
- Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.Journal of medical genetics · 2004Article
- A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer.Breast cancer research : BCR · 2004Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were screened for germline mutations. No pathogenic germline alterations were detected in these individuals. However, a somatic mutation was found (49-2A-->C) in one of the tumours. This tumour showed a pattern of both ductal and lobular histology. Another 10 families with cases of breast, gastric and colon cancer were also screened for germline mutations, and no mutations were found. A missense mutation in exon 12 of E-cadherin (1774G-->A; Ala592Thr) was previously found in one family with diffuse gastric cancer, and colon and breast cancer. An allelic association study was performed to determine whether the Ala592Thr alteration predisposes to breast cancer. In total, we studied 484 familial breast cancer patients, 614 sporadic breast cancer patients and 497 control individuals. The frequencies of this alteration were similar in these groups. However, a correlation between the Ala592Thr alteration and ductal comedo-type tumour was seen. These results, together with previously reported studies, indicate that germline mutations and, more commonly, somatic mutations in E-cadherin may have an influence on the behaviour of the tumours, rather than predispose to breast cancer.
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