Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G278R
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CDH1

NM_004360.5:p.G278R

Associated Papers

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM10_ESM.xlsx › Supplementary_Data_7

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

CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome.

Corso G et al.

Journal of Medical Genetics, 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

Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Riedlinger GM et al.

Breast Cancer Research : Bcr, 2021

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Moles-Fernández A et al.

Frontiers in Genetics, 2018

30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_6

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

The impact of prophylactic total gastrectomy on health-related quality of life: a prospective cohort study.

Worster E et al.

Annals of Surgery, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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

Hereditary diffuse gastric cancer.

Schrader K et al.

Cancer Treatment and Research, 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

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

Oliveira C et al.

Human Mutation, 2002

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

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