Associated Papers
TP53 mutation predict poor prognosis in diffuse large B-cell lymphoma: a single-center study.
Zhang H et al.
Annals of Hematology, 2026
Common gene mutations in 103 authenticated colorectal cancer cell lines.
Kranjec C et al.
Oncogenesis, 2026
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Sarcomatoid carcinoma of the prostate - A single institution experience with emphasis on molecular genetic findings.
Tekin B et al.
Human Pathology, 2026
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
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
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.
Sun Zhang A et al.
Scientific Reports, 2025
Characterization of the mutational status of glioblastoma and high-grade astrocytomas in a Latin American cohort.
Fernández-Gajardo R et al.
Scientific Reports, 2025
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Integrated histopathologic modeling of detailed tumor subtypes and actionable biomarkers.
Boehm KM et al.
Biorxiv : the Preprint Server for Biology, 2025
Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.
Moses R et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.
Usui Y et al.
Blood Cancer Discovery, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.
Kato T et al.
British Journal of Cancer, 2025
Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.
Vagher J et al.
Jco Precision Oncology, 2025
Clinically Sporadic Folliculin -mutated Renal Epithelial Neoplasms Represent a Mixture of True Somatic Folliculin -mutated and Occult Birt-Hogg-Dubé Syndrome-associated Cases : Morphologic and Molecular Overlap With TSC/MTOR -mutated Eosinophilic Renal Neoplasms and MiT Family Translocation Renal Cell Carcinoma.
Argani P et al.
The American Journal of Surgical Pathology, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Utility of the Base Editing System for Introducing Drug-Resistant Gene Mutations Into Human Leukemia Cellular Models.
Nguyen T et al.
Cureus, 2025
Clinicopathologic Features of Breast Tumors in Germline TP53 Variant-Associated Li-Fraumeni Syndrome.
Narasimhamurthy M et al.
The American Journal of Surgical Pathology, 2025
Confusing Histopathological Features and HPV Testing Results in Vulvar Squamous Cell Carcinoma Arising in a Young Woman: A Case Solved Using Next-Generation Sequencing.
Sisuashvili L et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2025
Possible new mechanisms of primary drug resistance in NSCLC with EGFR mutation treated with Osimertinib.
Shao L et al.
Iubmb Life, 2025
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Rofes P et al.
Genome Medicine, 2025
The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies.
Mahmoud AA et al.
Plos One, 2025
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E et al.
Iscience, 2024
The spectrum of hematologic neoplasms in patients with Li-Fraumeni syndrome.
Dimopoulos YP et al.
American Journal of Hematology, 2024
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
Bioinformatic Characterization of the Functional and Structural Effect of Single Nucleotide Mutations in Patients with High-Grade Glioma.
Vélez Gómez S et al.
Biomedicines, 2024
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Direct measurement of engineered cancer mutations and their transcriptional phenotypes in single cells.
Kim HS et al.
Nature Biotechnology, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024