CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Disease: Breast cancer, lobular ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE The E-cadherin gene (CDH1) is frequently mutated in diffuse gastric cancer and lobular breast cancer, and germline mutations predispose to the cancer syndrome Hereditary Diffuse Gastric Cancer. 30066183 2019
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer (HDGC) is a cancer syndrome associated with variants in E-cadherin (CDH1), diffuse gastric cancer and lobular breast cancer. 30745422 2019
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Germline CDH1 mutation carriers are at risk for early-onset diffuse gastric cancer (DGC) and female carriers have an additional risk of lobular breast cancer. 31273560 2019
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Somatic mutations in CDH1 are common in diffuse gastric cancer (DGC) and lobular breast cancer (LBC). 31467357 2019
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Pathogenic germline variants in CDH1 are associated with risk for diffuse gastric cancer (DGC) and lobular breast cancer. 30935944 2019
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast cancer, a clinically challenging cancer predisposition syndrome that often requires a multidisciplinary team of experts to be properly managed. 30311375 2018
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Variants in CDH1 have been linked to familial hereditary diffuse gastric cancer and invasive lobular breast cancer; however, no cases of gastric or breast cancer have been reported in our BCDS cases. 29348693 2018
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect. 29929997 2018
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 Biomarker disease BEFREE Recent analyses have identified loss-of-function germline mutations in cadherein-1 (CDH1) as a culprit in HDGC and LBC. 30007404 2018
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Females with germline CDH1 mutations face an additional risk of developing lobular breast cancer, with a reported cumulative risk of 60% by the age of 80 years.. 27441520 2016
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE In this brief review we revise the literature data about the CDH1 mutation frequency affecting exclusively lobular breast cancer, providing clinical recommendation for asymptomatic mutation carriers. 26759166 2016
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE The CDH1 gene, which encodes the cell-to-cell adhesion protein E-cadherin, is frequently mutated in lobular breast cancer (LBC) and diffuse gastric cancer (DGC). 25777964 2015
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 Biomarker disease BEFREE Additionally, CDH1 testing could be considered in patients with bilateral or familial LBC before the age of 50, patients with DGC and cleft lip/palate, and those with precursor lesions for signet ring cell carcinoma. 25979631 2015
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 Biomarker disease BEFREE On the whole, our results indicate that not only DGC patients, but also subjects with personal or family history of LBC might benefit from CDH1 genetic testing. 24493355 2014
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Relapsed classic E-cadherin (CDH1)-mutated invasive lobular breast cancer shows a high frequency of HER2 (ERBB2) gene mutations. 23575477 2013
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Our series of CDH1 mutation carriers is the largest to date and demonstrates that LBC might be the first manifestation of HDGC. 23709761 2013
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE The cumulative lifetime risk of developing gastric cancer in CDH1 mutation carriers is up to 80%, and women from these families also have an increased risk for developing lobular breast cancer. 22846738 2013
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE CDH1 mutation carriers have a strongly increased risk of developing gastric cancer (GC) and lobular breast cancer (LBC). 22020549 2012
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 Biomarker disease BEFREE Furthermore, we suggest that the deletion of the CDH1, a tumor suppressor gene, involved in hereditary diffuse gastric cancer (HDGC) and LBC predisposed the mother to the carcinoma. 22326525 2012
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Potentially pathogenic germline CDH1 mutations in women with early-onset or familial lobular breast cancer are at most infrequent. 20921021 2011
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE These were models of Trp53-mutated breast cancer, Brca1- and Brca2-associated hereditary breast cancer, and E-cadherin (Cdh1) mutated lobular breast cancer. 20942901 2010
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 Biomarker disease BEFREE Comprehensive genetic and functional characterization of IPH-926: a novel CDH1-null tumour cell line from human lobular breast cancer. 19191266 2009
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Nineteen of the 20 LBCs had a hypermethylated CDH1 promoter, including 13/14 ILCs and 13/13 ALHs or LCIS. 19294736 2009
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE Areas for future research are discussed, including development of new screening modalities, optimal timing of prophylactic gastrectomy, identification of additional causative mutations in HDGC, management of patients with CDH1 missense mutations and prevention/early detection of lobular breast cancer in CDH1 mutation carriers. 18684065 2008
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		0.200 GeneticVariation disease BEFREE CDH1 mutation carriers have an approximately 70% lifetime risk of developing DGC, and affected women carry an additional 20% to 40% risk of developing lobular breast cancer. 18798546 2008