Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Performance of upper gastrointestinal endoscopy in CDH1 germline pathogenic variant carriers: A multicenter study.
Castillo-Iturra J et al.
International Journal of Cancer, 2025
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.
Chaubal R et al.
Breast Cancer Research and Treatment, 2025
An Analytical Approach that Combines Knowledge from Germline and Somatic Mutations Enhances Tumor Genomic Reanalyses in Precision Oncology.
DeVoe E et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2025
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
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
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
CDH1 germline mutations in a Chinese cohort with hereditary diffuse gastric cancer.
Pan Z et al.
Journal of Cancer Research and Clinical Oncology, 2022
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.
Adib E et al.
British Journal of Cancer, 2022
Indolent feature of Helicobacter pylori-uninfected intramucosal signet ring cell carcinomas with CDH1 mutations.
Nikaido M et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2021
Clinical, Molecular and Genetic Characteristics of Early Onset Gastric Cancer: Analysis of a Large Multicenter Study.
Pocurull A et al.
Cancers, 2021
The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.
De Mattos-Arruda L et al.
Npj Breast Cancer, 2021
Germline evaluation of patients undergoing tumor genomic profiling: An academic cancer center's experience with implementing a germline review protocol.
Stachowiak S et al.
Journal of Genetic Counseling, 2021
The Genomic Landscape of Lobular Breast Cancer.
McCart Reed AE et al.
Cancers, 2021
Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.
Riedlinger GM et al.
Breast Cancer Research : Bcr, 2021
Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.
Shi MJ et al.
Genome Medicine, 2020
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Kang T et al.
Breast Cancer Research : Bcr, 2020
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A et al.
Genes, 2020
Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.
Aronson M et al.
Current Oncology (toronto, Ont.), 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer.
Funakoshi T et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 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
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.
Nassar AH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.
Busch EL et al.
Oncotarget, 2017
Overexpressed somatic alleles are enriched in functional elements in Breast Cancer.
Restrepo P et al.
Scientific Reports, 2017
RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.
Kato S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.
Huynh JM et al.
Molecular Genetics & Genomic Medicine, 2016
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.
van der Post RS et al.
Gastroenterology, 2015
Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome.
Molinaro V et al.
Genes, Chromosomes & Cancer, 2014
CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.
Kluijt I et al.
International Journal of Cancer, 2012
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 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