Gene: CDH1

Alternate names for this Gene: Arc-1|BCDS1|CD324|CDHE|ECAD|LCAM|UVO

Gene Summary: This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: cadherin 1

Type of Gene: protein-coding

rs9929218 in CDH1 gene and Adenocarcinoma of large intestine PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs1555515445 in CDH1 gene and BLEPHAROCHEILODONTIC SYNDROME 1 PMID 28301459 2017 Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

rs9929218 in CDH1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs9929218 in CDH1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs9929218 in CDH1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs9929218 in CDH1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs9929218 in CDH1 gene and Colorectal Carcinoma PMID 19011631 2008 We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)).

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs9929218 in CDH1 gene and Colorectal Neoplasms PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs35158985 in CDH1 gene and Cutaneous Melanoma PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs11426768 in CDH1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1060501215 in CDH1 gene and Hereditary Diffuse Gastric Cancer PMID 10433926 1999 Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation.

PMID 17545690 2007 Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

PMID 26182300 2015 Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

PMID 15780560 2005 CDH1 associated gastric cancer: a report of a family and review of the literature.

PMID 17221870 2007 Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.

PMID 10072428 1999 Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.

PMID 15235021 2004 Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.

PMID 20373070 2010 Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.

PMID 26072394 2015 Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

PMID 18442100 2008 Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 22388873 2012 Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 17392385 2007 American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

PMID 27064202 2016 Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.

PMID 18788075 2008 Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 11968084 2002 Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.

PMID 18046629 2008 Hereditary diffuse gastric cancer: association with lobular breast cancer.

PMID 10094558 1999 Identification of eleven novel tumor-associated E-cadherin mutations. Mutations in brief no. 215. Online.

PMID 10477433 1999 E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.

PMID 11104024 2000 E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma.

PMID 21271559 2011 Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer.

PMID 16061854 2005 Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management.

PMID 9751616 1998 Identification of germ-line E-cadherin mutations in gastric cancer families of European origin.

PMID 11419427 2001 Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21696387 2012 De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer.

PMID 19965908 2010 Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.

PMID 9537325 1998 E-cadherin germline mutations in familial gastric cancer.

PMID 20719348 2011 Prophylactic total gastrectomy for individuals with germline CDH1 mutation.

PMID 24366306 2014 Germline CDH1 mutations in bilateral lobular carcinoma in situ.

PMID 20066110 2009 Structure and biochemistry of cadherins and catenins.

PMID 2317870 1990 Localization of specificity determining sites in cadherin cell adhesion molecules.

PMID 18726070 2008 The cell-cell adhesion molecule E-cadherin.

PMID 28202063 2017 Next-generation sequencing in familial breast cancer patients from Lebanon.

PMID 26022348 2015 HBOC multi-gene panel testing: comparison of two sequencing centers.

PMID 19269290 2009 Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.

PMID 18391748 2008 Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.

PMID 22118538 2011 Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma.

PMID 21424370 2011 A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer.

PMID 20824432 2010 [Hereditary gastric cancer].

PMID 22225527 2012 Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.

PMID 20624523 2010 Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation.

PMID 24389957 2014 Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study.

PMID 22020549 2012 CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

PMID 25315765 2014 Metastatic tumor evolution and organoid modeling implicate TGFBR2 as a cancer driver in diffuse gastric cancer.

PMID 22850631 2013 The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

PMID 17261850 2007 Type I gamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin.

PMID 10037790 1999 Coupling assembly of the E-cadherin/beta-catenin complex to efficient endoplasmic reticulum exit and basal-lateral membrane targeting of E-cadherin in polarized MDCK cells.

PMID 29798843 2018 A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.

PMID 17955726 2007 [Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene].

PMID 27730413 2016 Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016).

PMID 19725995 2007 A short guide to hereditary diffuse gastric cancer.

PMID 8127895 1994 E-cadherin gene mutations in human gastric carcinoma cell lines.

PMID 18427545 2008 The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers.

PMID 12216071 2002 E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer.

PMID 10319582 1999 Germline mutations of E-cadherin gene in Korean familial gastric cancer patients.

PMID 27192129 2016 CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).

PMID 29511593 2018 Next generation sequencing-based emerging trends in molecular biology of gastric cancer.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 16924464 2006 A model to infer the pathogenic significance of CDH1 germline missense variants.

PMID 29577179 2019 Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer.

PMID 27582386 2016 Roles for E-cadherin cell surface regulation in cancer.

PMID 28873162 2017 Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

PMID 19268661 2009 To accomplish our objective we characterized the effect of eleven HDGC CDH1 germline missense mutations (T118R, L214P, G239R, A298T, T340A, P373L, R749W, E757K, E781D, P799R and V832M) on cell motility.

PMID 23264079 2013 Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 17522512 2007 CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer.

PMID 22723466 2013 Hereditary diffuse gastric cancer: a family diagnosis and treatment.

PMID 24424122 2014 Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA.

PMID 23752020 2013 Laparoscopic prophylactic total gastrectomy with linear stapler side-to-side esophagojejunal anastomosis for hereditary diffuse gastric cancer syndrome in 2 siblings.

PMID 16527687 2006 Hereditary diffuse gastric cancer: diagnosis and management.

PMID 22098830 2012 Familial gastric cancer: genetics, diagnosis, and management.

PMID 15138207 2004 Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone.

PMID 23575477 2013 Relapsed classic E-cadherin (CDH1)-mutated invasive lobular breast cancer shows a high frequency of HER2 (ERBB2) gene mutations.

PMID 20371349 2010 Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 17660459 2007 Germline E-cadherin mutations in familial lobular breast cancer.

PMID 23709761 2013 CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

PMID 24493355 2014 Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome.

PMID 26025002 2015 Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation.

PMID 27682646 2016 Prophylactic total gastrectomy in the management of hereditary tumor syndromes.

PMID 27995193 2016 Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients.

PMID 21681551 2011 The identification and management of hereditary diffuse gastric cancer in a large Jordanian family.

PMID 15831593 2006 Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.

PMID 27880784 2016 These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing.

PMID 29769627 2018 Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling.

PMID 28688938 2018 Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.

PMID 29156750 2017 Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

PMID 30745422 2019 Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

PMID 25123297 2015 Tumor genome analysis includes germline genome: are we ready for surprises?

PMID 11665720 2001 Hereditary diffuse gastric cancer.

PMID 28195815 2017 A Life Potentially Saved Through Hereditary Cancer Panel Testing.

PMID 12647996 2003 Genetic screening for hereditary diffuse gastric cancer.

PMID 16997156 2006 Familial gastric cancer - aetiology and pathogenesis.

PMID 10973239 2000 Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer.

PMID 20233471 2004 Genetic screening for familial gastric cancer.

PMID 30264118 2018 Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.

PMID 23124477 2013 Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1.

PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 27512640 2016 A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer.

PMID 12800196 2003 Epigenetic and genetic alterations of APC and CDH1 genes in lobular breast cancer: relationships with abnormal E-cadherin and catenin expression and microsatellite instability.

rs35158985 in CDH1 gene and Malignant melanoma of skin of lower limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs35158985 in CDH1 gene and Malignant melanoma of skin of upper limb PMID 26237428 2015 Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

rs9929218 in CDH1 gene and Malignant neoplasm of large intestine PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs9929218 in CDH1 gene and Malignant tumor of colon PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs34117943 in CDH1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs9929218 in CDH1 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs1060501244 in CDH1 gene and Neoplastic Syndromes, Hereditary PMID 15235021 2004 Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.

PMID 19269290 2009 Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.

PMID 17634464 2007 Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancer.

PMID 26072394 2015 Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

PMID 23073328 2012 Endoscopic surveillance of patients with hereditary diffuse gastric cancer: biopsy recommendations after topographic distribution of cancer foci in a series of 10 CDH1-mutated gastrectomies.

PMID 17545690 2007 Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

PMID 26025002 2015 Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation.

PMID 24204729 2013 Identification and characterization of CDH1 germline variants in sporadic gastric cancer patients and in individuals at risk of gastric cancer.

PMID 19725995 2007 A short guide to hereditary diffuse gastric cancer.

PMID 20233471 2004 Genetic screening for familial gastric cancer.

PMID 20371349 2010 Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion.

PMID 9751616 1998 Identification of germ-line E-cadherin mutations in gastric cancer families of European origin.

PMID 15457549 2004 CDH1 germline mutation in hereditary gastric carcinoma.

PMID 21696387 2012 De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer.

PMID 16061854 2005 Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management.

PMID 19965908 2010 Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.

PMID 11968084 2002 Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.

PMID 20719348 2011 Prophylactic total gastrectomy for individuals with germline CDH1 mutation.

PMID 20373070 2010 Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.

PMID 22020549 2012 CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

PMID 18391748 2008 Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.

PMID 24389957 2014 Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study.

PMID 25315765 2014 Metastatic tumor evolution and organoid modeling implicate TGFBR2 as a cancer driver in diffuse gastric cancer.

PMID 19223545 2009 E-cadherin deficiency initiates gastric signet-ring cell carcinoma in mice and man.

PMID 9537325 1998 E-cadherin germline mutations in familial gastric cancer.

PMID 22225527 2012 Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.

PMID 23709761 2013 CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

PMID 8127895 1994 E-cadherin gene mutations in human gastric carcinoma cell lines.

PMID 18427545 2008 The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers.

PMID 18046629 2008 Hereditary diffuse gastric cancer: association with lobular breast cancer.

PMID 27064202 2016 Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.

PMID 26182300 2015 Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

PMID 27582386 2016 Roles for E-cadherin cell surface regulation in cancer.

PMID 23264079 2013 Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients.

PMID 17221870 2007 Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.

PMID 19268661 2009 E-cadherin mutations and cell motility: a genotype-phenotype correlation.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 16924464 2006 A model to infer the pathogenic significance of CDH1 germline missense variants.

PMID 22723466 2013 Hereditary diffuse gastric cancer: a family diagnosis and treatment.

PMID 24424122 2014 Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA.

PMID 21424370 2011 A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer.

PMID 11948460 2002 Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 17522512 2007 CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer.

PMID 23752020 2013 Laparoscopic prophylactic total gastrectomy with linear stapler side-to-side esophagojejunal anastomosis for hereditary diffuse gastric cancer syndrome in 2 siblings.

PMID 15138207 2004 Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 17660459 2007 Germline E-cadherin mutations in familial lobular breast cancer.

PMID 27752808 2016 Prophylactic Total Gastrectomy: a Prospective Cohort Study of Long-Term Impact on Quality of Life.

PMID 15955779 2005 IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content.

PMID 25979631 2015 Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.

PMID 11729114 2001 Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families.

PMID 11348595 2001 The structure of the beta-catenin/E-cadherin complex and the molecular basis of diverse ligand recognition by beta-catenin.

PMID 12824398 2003 GlobPlot: Exploring protein sequences for globularity and disorder.

PMID 24366306 2014 Germline CDH1 mutations in bilateral lobular carcinoma in situ.

PMID 27682646 2016 Prophylactic total gastrectomy in the management of hereditary tumor syndromes.

PMID 27995193 2016 Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients.

PMID 15831593 2006 Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.

PMID 21681551 2011 The identification and management of hereditary diffuse gastric cancer in a large Jordanian family.

PMID 11291078 2001 Multiple ways of silencing E-cadherin gene expression in lobular carcinoma of the breast.

PMID 22850631 2013 The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

PMID 10477433 1999 E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.

PMID 10072428 1999 Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.

PMID 25123297 2015 Tumor genome analysis includes germline genome: are we ready for surprises?

PMID 28195815 2017 A Life Potentially Saved Through Hereditary Cancer Panel Testing.

PMID 28202063 2017 Next-generation sequencing in familial breast cancer patients from Lebanon.

rs35158985 in CDH1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35158985 in CDH1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs71382075 in CDH1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.