Associated Papers
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multigene germline and somatic testing for epithelial ovarian cancer in China.
Li L et al.
Npj Precision Oncology, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
FGFR Alterations in Thyroid Carcinoma: A Novel Class of Primary Drivers with Significant Therapeutic Implications and Secondary Molecular Events Potentially Mediating Resistance in Thyroid Malignancy.
Sabbagh MF et al.
Thyroid : Official Journal of the American Thyroid Association, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K et al.
Cancers, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 2021
The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.
Deek MP et al.
European Urology, 2021
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
Evaluation of TP53 mutations with the AmpliChip p53 research test in chronic lymphocytic leukemia: correlation with clinical outcome and gene expression profiling.
Chiaretti S et al.
Genes, Chromosomes & Cancer, 2011
Familial isolated pituitary adenomas: from genetics to therapy.
Guaraldi F et al.
Clinical and Translational Science, 2011
Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.
Cain JW et al.
Expert Review of Endocrinology & Metabolism, 2010