Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
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
How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?
Rashkin M et al.
Journal of Genetic Counseling, 2023
CDH1 pathogenic variants and cancer risk in an unselected patient population.
Bar-Mashiah A et al.
Familial Cancer, 2022
Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.
Corso G et al.
Cancers, 2021
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A et al.
Genes, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.
Roberts ME et al.
Jama Oncology, 2019
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
Mersch J et al.
Jama, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
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 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
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
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