Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.A692A
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CDH1

NM_004360.5:p.A692A

Associated Papers

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

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

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

CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.

Corso G et al.

Jama Network Open, 2024

PATHOLOGICAL SIGNIFICANCE OF CDH1/E-CADHERIN GERMLINE SEQUENCE VARIANTS IN BREAST CANCER PATIENTS.

Tabassum S et al.

Experimental Oncology, 2023

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

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Hs746T

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

Cerrato-Izaguirre D et al.

Genes & Diseases, 2022

CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.

Ben Aissa-Haj J et al.

Genes, 2022

Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.

Carnevali I et al.

Frontiers in Oncology, 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

Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.

Chen D et al.

Frontiers in Oncology, 2022

36518309 (PubMed )
Supplement: Table_1.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

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34

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

A pan-cancer analysis of synonymous mutations.

Sharma Y et al.

Nature Communications, 2019

31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer

CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.

Bustos-Carpinteyro AR et al.

Bmc Cancer, 2019

30642281 (PubMed )
Supplement: 12885_2019_5294_MOESM2_ESM.pdf

Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.

Pan ZW et al.

Frontiers in Oncology, 2019

30967997 (PubMed )
Supplement: Table_1.XLSX › Sheet1

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

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.

Gray PN et al.

Oncotarget, 2018

29755653 (PubMed )
Supplement: oncotarget-09-20304-s001.pdf

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

Stuebs F et al.

Archives of Gynecology and Obstetrics, 2018

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

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

Caggiari L et al.

International Journal of Molecular Sciences, 2017

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

El-Husny A et al.

Genetics and Molecular Biology, 2016

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

Prager M et al.

Journal of Digestive Diseases, 2015

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.

Sun Y et al.

The Canadian Journal of Cardiology, 2015

CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.

Lajus TB et al.

Gene, 2015

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf

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

Molinaro V et al.

Genes, Chromosomes & Cancer, 2014

Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.

Valente AL et al.

Hereditary Cancer in Clinical Practice, 2014

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

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf

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

Recruitment of histone deacetylases HDAC1 and HDAC2 by the transcriptional repressor ZEB1 downregulates E-cadherin expression in pancreatic cancer.

Aghdassi A et al.

Gut, 2012

E-cadherin genetic screening and clinico-pathologic characteristics of early onset gastric cancer.

Corso G et al.

European Journal of Cancer (oxford, England : 1990), 2011

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM et al.

Breast Cancer Research : Bcr, 2011

21356067 (PubMed )
Supplement: bcr2832-S1.PDF

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

Jakubowska A et al.

Familial Cancer, 2010

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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."