Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.N751N
Back to variants list

CDH1

NM_004360.5:p.N751N

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Aberrant transcription caused by an intronic non-canonical CDH1 variant.

Bouras A et al.

Familial Cancer, 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1

Low expression of E-Cadherin and CDH1 variants associated with diffuse gastric cancer.

García-Ruvalcaba A et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2023

CDH1 germline mutations in a Chinese cohort with hereditary diffuse gastric cancer.

Pan Z et al.

Journal of Cancer Research and Clinical Oncology, 2022

Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.

Cerrato-Izaguirre D et al.

Genes & Diseases, 2022

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Genotyping data of routinely processed matched primary/metastatic tumor samples.

Kotoula V et al.

Data in Brief, 2021

33365374 (PubMed )
Supplement: mmc1.xlsx › S3_variants

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

Norero E et al.

International Journal of Molecular Sciences, 2019

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

Moridnia A et al.

Journal of Gastrointestinal Cancer, 2019

Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Guindalini RSC et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2019

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S et al.

Bmc Medical Genetics, 2018

29929473 (PubMed )
Supplement: 12881_2018_605_MOESM2_ESM.xlsx › all_gene_variants

CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.

Stuebs F et al.

Archives of Gynecology and Obstetrics, 2018

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S et al.

Plos One, 2018

30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family8_SNPs

Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.

Caggiari L et al.

International Journal of Molecular Sciences, 2017

Genetic variants in gastric cancer: Risks and clinical implications.

Gigek CO et al.

Experimental and Molecular Pathology, 2017

CDH1/E-cadherin and solid tumors. An updated gene-disease association analysis using bioinformatics tools.

Abascal MF et al.

Computational Biology and Chemistry, 2016

Genes involved in the regulation of intestinal permeability and their role in ulcerative colitis.

Prager M et al.

Journal of Digestive Diseases, 2015

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4

CDH1 polymorphisms and haplotypes in sporadic diffuse and intestinal gastric cancer: a case-control study based on direct sequencing analysis.

Chu CM et al.

World Journal of Surgical Oncology, 2014

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf

Novel CDH1 germline mutations identified in Chinese gastric cancer patients.

Chen QH et al.

World Journal of Gastroenterology, 2013

Molecular and survival differences between familial and sporadic gastric cancers.

Fang WL et al.

Biomed Research International, 2013

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

Garziera M et al.

Plos One, 2013

[Molecular genetics study of hereditary predisposition to diffuse gastric cancer in Russian patients].

Tsukanov AC et al.

Voprosy Onkologii, 2013

CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland.

Jakubowska A et al.

Familial Cancer, 2010

Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.

Pinheiro H et al.

Human Molecular Genetics, 2010

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

Oliveira C et al.

Gastroenterology, 2009

Molecular analysis of primary gastric cancer, corresponding xenografts, and 2 novel gastric carcinoma cell lines reveals novel alterations in gastric carcinogenesis.

Milne AN et al.

Human Pathology, 2007

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.

Oliveira C et al.

European Journal of Cancer (oxford, England : 1990), 2004

Genetic screening for familial gastric cancer.

Oliveira C et al.

Hereditary Cancer in Clinical Practice, 2004

Genetic screening for hereditary diffuse gastric cancer.

Oliveira C et al.

Expert Review of Molecular Diagnostics, 2003

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

Yabuta T et al.

International Journal of Cancer, 2002

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.

Oliveira C et al.

Human Mutation, 2002

An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene.

Berx G et al.

Human Mutation, 1997

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."