Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.H632H
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CDH1

NM_004360.5:p.H632H

Associated Papers

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

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

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

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

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

Caggiari L et al.

International Journal of Molecular Sciences, 2017

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

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

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

Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer.

Barber M et al.

The Journal of Pathology, 2008

High incidence of familial gastric cancer in Tuscany, a region in Italy.

Roviello F et al.

Oncology, 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

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

Oliveira C et al.

Human Mutation, 2002

Inactivation of the E-cadherin gene in sporadic diffuse-type gastric cancer.

Ascaño JJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2001

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

Berx G et al.

Human Mutation, 1997

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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."