Associated Papers
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
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
Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.
Boström M et al.
Nature Communications, 2022
The Genomic Landscape of Lobular Breast Cancer.
McCart Reed AE et al.
Cancers, 2021
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.
Corso G et al.
Cancers, 2021
Genomic Characterization of de novo Metastatic Breast Cancer.
Garrido-Castro AC et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.
Riedlinger GM et al.
Breast Cancer Research : Bcr, 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
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
Lo W et al.
Journal of Medical Genetics, 2019
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.
Obermair F et al.
Familial Cancer, 2019
Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
Figueiredo J et al.
Journal of Medical Genetics, 2019
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.
Brito LA et al.
Human Mutation, 2015
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S et al.
Jama Oncology, 2015
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
Benusiglio PR et al.
Journal of Medical Genetics, 2013
Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1.
Benusiglio PR et al.
International Journal of Cancer, 2013