Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.M1T
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CDH1

NM_004360.5:p.M1T

Associated Papers

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

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

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

Corso G et al.

Cancers, 2021

33809393 (PubMed )
Supplement: cancers-13-01269-s001.pdf

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_6.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

Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.

Cai C et al.

Gastroenterology Research and Practice, 2020

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.

Corso G et al.

Bmc Cancer, 2012

[Hereditary gastric cancer].

Wolf EM et al.

Der Pathologe, 2010

Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.

Guilford P et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 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."