Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.W638*
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CDH1

NM_004360.5:p.W638*

Associated Papers

Performance of upper gastrointestinal endoscopy in CDH1 germline pathogenic variant carriers: A multicenter study.

Castillo-Iturra J et al.

International Journal of Cancer, 2025

40650379 (PubMed )
Supplement: IJC-157-2550-s001.pdf

Ivabradine induces RAD51 degradation, potentiating PARP inhibitor efficacy in non-germline BRCA pathogenic variant triple-negative breast cancer.

Tsoi H et al.

Journal of Translational Medicine, 2025

40764992 (PubMed )
Supplement: 12967_2025_6902_MOESM4_ESM.xlsx › Sheet1

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.

Pommerenke C et al.

Cells, 2024

38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations

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

33929593 (PubMed )
Supplement: 401_2021_2307_MOESM1_ESM.pdf

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s002.xlsx › Sheet1

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Selvanathan A et al.

Genes, 2020

32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List

Ephrin-B1 Is a Novel Biomarker of Bladder Cancer Aggressiveness. Studies in Murine Models and in Human Samples.

Mencucci MV et al.

Frontiers in Oncology, 2020

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

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A et al.

European Journal of Human Genetics : Ejhg, 2018

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

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

Van Domselaar F et al.

Acta Gastroenterologica Latinoamericana, 2007

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

Kaurah P et al.

Jama, 2007

Bronchoalveolar Lavage as Potential Diagnostic Specimens to Genetic Testing in Advanced Nonsmall Cell Lung Cancer.

Lin X et al.

Technology in Cancer Research & Treatment, 0

37743841 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338231202881.xlsx › Table_S4
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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."