Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E24*
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CDH1

NM_004360.5:p.E24*

Associated Papers

CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study.

Corso G et al.

Familial Cancer, 2023

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

Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing.

Li Q et al.

Journal of Gastrointestinal Oncology, 2022

36092348 (PubMed )
Supplement: jgo-13-04-1864-supplementary.pdf

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

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

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

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Hayashi H et al.

Cancer Science, 2020

32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S2

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

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

Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer.

Xie ZM et al.

Cancer, 2011

[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

A short guide to hereditary diffuse gastric cancer.

Guilford P et al.

Hereditary Cancer in Clinical Practice, 2007

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

Kaurah P et al.

Jama, 2007

Genetics, pathology, and clinics of familial gastric cancer.

Oliveira C et al.

International Journal of Surgical Pathology, 2006

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.

Brooks-Wilson AR et al.

Journal of Medical Genetics, 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

Preventive gastrectomy in patients with gastric cancer risk due to genetic alterations of the E-cadherin gene defect.

Schwarz A

Langenbeck's Archives of Surgery, 2003

Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families.

Pharoah PD et al.

Gastroenterology, 2001

Mutations in MKKS cause Bardet-Biedl syndrome.

Slavotinek AM et al.

Nature Genetics, 2000

Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer.

Grady WM et al.

Nature Genetics, 2000

Familial gastric cancer: overview and guidelines for management.

Caldas C et al.

Journal of Medical Genetics, 1999

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.

Guilford PJ et al.

Human Mutation, 1999

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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."