Associated Papers
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
Germline genomic profiling of patients with early-onset colorectal cancer.
Mauri G et al.
Esmo Gastrointestinal Oncology, 2025
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues.
Sánchez-Guixé M et al.
Cancer Discovery, 2024
Clinical and genomic characterization of chemoradiation-resistant HPV-positive oropharyngeal squamous cell carcinoma.
Guo T et al.
Frontiers in Oncology, 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
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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Palafox M et al.
Nature Communications, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.
Cerrato-Izaguirre D et al.
Genes & Diseases, 2022
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
Genomic Analysis of Tumors from Patients with Glioblastoma with Long-Term Response to Afatinib.
Owen S et al.
Oncotargets and Therapy, 2022
PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.
Dansonka-Mieszkowska A et al.
Plos One, 2022
Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
Massari G et al.
Cancers, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Dámaso E et al.
Cancers, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.
Norero E et al.
International Journal of Molecular Sciences, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 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
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.
Hakkaart C et al.
Familial Cancer, 2019
Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.
Hamilton JG et al.
Jco Precision Oncology, 2019
Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.
Corso G et al.
Journal of Medical Genetics, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Mucaki EJ et al.
Bmc Medical Genomics, 2016
CDH1 germline mutations and hereditary lobular breast cancer.
Corso G et al.
Familial Cancer, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
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
Afatinib, an irreversible ErbB family blocker, with protracted temozolomide in recurrent glioblastoma: a case report.
Alshami J et al.
Oncotarget, 2015
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