Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.A592T
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CDH1

NM_004360.5:p.A592T

Associated Papers

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.

Parra A et al.

Cancers, 2025

41514647 (PubMed )
Supplement: cancers-18-00139-s001.zip › cancers-4026395-supplementary-Table_S2.pdf

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

Epidermal growth factor receptor is an essential component in E-cadherin force transduction complexes.

Zou Y et al.

Journal of Cell Science, 2025

Activity of Brigatinib in Patients With Crizotinib-Resistant ALK-positive Non-Small-Cell Lung Cancer According to ALK Fusion and Mutation Status.

Bazhenova L et al.

Clinical Lung Cancer, 2025

Germline genomic profiling of patients with early-onset colorectal cancer.

Mauri G et al.

Esmo Gastrointestinal Oncology, 2025

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

The Application of Liquid Biopsy for the Development and Validation of a Non-Invasive Screening and Diagnosis Test for Endometrial Premalignant and Malignant Lesions: A Prospective Innovative Pilot Study.

Esposito G et al.

Cancers, 2025

40227624 (PubMed )
Supplement: cancers-17-01078-s001.zip › cancers-3453291-supplementary.xlsx › Foglio1

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS06_het

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

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

Tabassum S et al.

Experimental Oncology, 2023

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.

Zhunussova G et al.

Oncotarget, 2023

37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

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

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

Croft B et al.

Clinical Genetics, 2023

36349847 (PubMed )
Supplement: CGE-103-277-s003.xlsx › Sheet1

CDH1 germline mutations in families with hereditary lobular breast cancer.

Girardi A et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2022

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

Ben Aissa-Haj J et al.

Genes, 2022

35327954 (PubMed )
Supplement: genes-13-00400-s001.zip › Table_S4.xls › Feuil1

PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.

Dansonka-Mieszkowska A et al.

Plos One, 2022

35867729 (PubMed )
Supplement: pone.0271539.s007.xlsx › All.SNPs.49.genes_val.coh.

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.

Förster A et al.

Acta Neuropathologica, 2021

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Massari G et al.

Cancers, 2021

Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.

Corso G et al.

Cancers, 2021

Defined lifestyle and germline factors predispose Asian populations to gastric cancer.

Suzuki A et al.

Science Advances, 2020

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Bishop MR et al.

Plos One, 2020

32866190 (PubMed )
Supplement: pone.0238295.s002.xlsx › S2_Table

Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.

Esterling L et al.

Jco Precision Oncology, 2020

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S1_CDH1_A

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases.

Pivovarcikova K et al.

Histopathology, 2019

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 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

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.

Corso G et al.

Journal of Medical Genetics, 2018

Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer.

Corso G et al.

Archives of Gynecology and Obstetrics, 2018

Reply to letter by Dr. G. Corso.

Stuebs F et al.

Archives of Gynecology and Obstetrics, 2018

Identification of genetic variants for clinical management of familial colorectal tumors.

Dominguez-Valentin M et al.

Bmc Medical Genetics, 2018

Genome-wide profiling identifies the THYT1 signature as a distinctive feature of widely metastatic Papillary Thyroid Carcinomas.

Gandolfi G et al.

Oncotarget, 2018

29416733 (PubMed )
Supplement: oncotarget-09-1813-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

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
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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."