Associated Papers
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.
Boruah N et al.
Biorxiv : the Preprint Server for Biology, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Borcoman E et al.
International Journal of Molecular Sciences, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research.
Cui Y et al.
Frontiers in Genetics, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.
Mäki-Nevala S et al.
International Journal of Cancer, 2021
Analysis and Interpretation of the Impact of Missense Variants in Cancer.
Petrosino M et al.
International Journal of Molecular Sciences, 2021
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Doffe F et al.
Cell Death and Differentiation, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.
Xu C et al.
Bmc Medical Genomics, 2020
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.
Betancor-Fernández I et al.
Handbook of Experimental Pharmacology, 2018
Application of a multi-gene next-generation sequencing panel to a non-invasive oesophageal cell-sampling device to diagnose dysplastic Barrett's oesophagus.
Katz-Summercorn A et al.
The Journal of Pathology. Clinical Research, 2017
Genetic alterations of triple negative breast cancer by targeted next-generation sequencing and correlation with tumor morphology.
Weisman PS et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016
Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium.
Tops BB et al.
Bmc Cancer, 2015
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L et al.
European Journal of Human Genetics : Ejhg, 2014
Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.
Brannon AR et al.
Genome Biology, 2014
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
Toy W et al.
Nature Genetics, 2013
Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.
Kamada R et al.
The Journal of Biological Chemistry, 2011
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
Imagawa T et al.
Analytical Biochemistry, 2009
p53 functional assays: detecting p53 mutations in both the germline and in sporadic tumours.
Camplejohn RS et al.
Cell Proliferation, 2001
Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain.
Rollenhagen C et al.
International Journal of Cancer, 1998