Associated Papers
Integrative Computational Analysis of TP53 Exon 5-6 Mutations in Oral Cavity, Prostate, and Breast Cancers in a Senegalese Population.
Mbaye M et al.
Genes, 2026
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.
Paulino PJIV et al.
Journal, Genetic Engineering & Biotechnology, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
Blastic plasmacytoid dendritic cell neoplasm secondary to acute myeloid leukemia with shared mutations in TET2 and DNMT3A: a case report and literature review.
Sun Y et al.
Frontiers in Immunology, 2025
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Jaramillo Oquendo C et al.
Genome Medicine, 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
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.
Wei Y et al.
Molecular Oncology, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.
Boström M et al.
Nature Communications, 2022
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Landscape of somatic alterations in large-scale solid tumors from an Asian population.
Wu L et al.
Nature Communications, 2022
Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.
Burkhardt B et al.
Nature Communications, 2022
Clinico-genomic profiling and clonal dynamic modeling of TP53-aberrant myelodysplastic syndrome and acute myeloid leukemia.
Patel SA et al.
Leukemia & Lymphoma, 2021
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.
Tam B et al.
International Journal of Molecular Sciences, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid.
Bae JS et al.
Endocrine Pathology, 2021
Identification of relevant genetic alterations in cancer using topological data analysis.
Rabadán R et al.
Nature Communications, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Targeted Next-Generation Sequencing Validates the Use of Diagnostic Biopsies as a Suitable Alternative to Resection Material for Mutation Screening in Colorectal Cancer.
Ham-Karim HA et al.
Molecular Diagnosis & Therapy, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Comprehensive Molecular Characterization of Young Chinese Patients with Lung Adenocarcinoma Identified a Distinctive Genetic Profile.
Hou H et al.
The Oncologist, 2018
TP53 hotspot mutations are predictive of survival in primary central nervous system lymphoma patients treated with combination chemotherapy.
Munch-Petersen HD et al.
Acta Neuropathologica Communications, 2016
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis.
Cai X et al.
Journal of Cancer Research and Clinical Oncology, 2012
Comprehensive mapping of p53 pathway alterations reveals an apparent role for both SNP309 and MDM2 amplification in sarcomagenesis.
Ito M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011
Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
Chen Z et al.
Plos One, 2008
Molecular analysis of CDKN1C and TP53 in sporadic adrenal tumors.
Barzon L et al.
European Journal of Endocrinology, 2001