Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R74*
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CDH1

NM_004360.5:p.R74*

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

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

Efficacy of immunotherapy in ARID1A-mutant solid tumors: a single-center retrospective study.

Zhou H et al.

Discover Oncology, 2024

38847966 (PubMed )
Supplement: 12672_2024_1074_MOESM2_ESM.xlsx › Sheet1

A clinically applicable molecular classification of oncocytic cell thyroid nodules.

de Koster EJ et al.

Endocrine-related Cancer, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

Andersen LVB et al.

Breast Cancer Research : Bcr, 2023

37316882 (PubMed )
Supplement: 13058_2023_1655_MOESM9_ESM.xlsx › Substitutions_and_indels

Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.

Park HY et al.

Biomedicines, 2023

36979829 (PubMed )
Supplement: biomedicines-11-00851-s001.zip › biomedicines-2237878-supplementary.pdf

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

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Garcia-Pelaez J et al.

The Lancet. Oncology, 2023

36436516 (PubMed )
Supplement: mmc1.pdf

Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.

Jiménez-Rodríguez B et al.

International Journal of Molecular Sciences, 2022

Soluble E-Cadherin as a Potential Biomarker in Hereditary Diffuse Gastric Cancer Syndrome.

Teke ME et al.

Annals of Surgical Oncology, 2022

CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.

Adib E et al.

British Journal of Cancer, 2022

TP53 alterations of hormone-naïve prostate cancer in the Chinese population.

Liu Z et al.

Prostate Cancer and Prostatic Diseases, 2021

CDH1 Gene Mutation Hereditary Diffuse Gastric Cancer Outcomes: Analysis of a Large Cohort, Systematic Review of Endoscopic Surveillance, and Secondary Cancer Risk Postulation.

Benesch MGK et al.

Cancers, 2021

34073553 (PubMed )
Supplement: cancers-13-02622-s001.zip › cancers-1207957-supplementary.pdf

The Genomic Landscape of Lobular Breast Cancer.

McCart Reed AE et al.

Cancers, 2021

33919581 (PubMed )
Supplement: cancers-13-01950-s001.zip › cancers-1163927-supplementary_tables.xlsx › Table_S1_WES

Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Riedlinger GM et al.

Breast Cancer Research : Bcr, 2021

33441174 (PubMed )
Supplement: 13058_2020_1385_MOESM2_ESM.xls › Sheet1

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.

Llach J et al.

Cancers, 2020

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

Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.

Roberts ME et al.

Jama Oncology, 2019

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › POLAR_All

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

Busch EL et al.

Oncotarget, 2017

29156750 (PubMed )
Supplement: oncotarget-08-85680-s002.xlsx › CDH1

Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.

Ross JS et al.

Cancer, 2016

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

Catenacci DV et al.

International Journal of Cancer, 2015

Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas.

Li-Chang HH et al.

Bmc Cancer, 2015

25656989 (PubMed )
Supplement: 12885_2015_1021_MOESM6_ESM.xlsx › Sheet1
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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."