Associated Papers
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.
Kim HY et al.
Annals of Laboratory Medicine, 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
Comparative analysis of the mutational landscape and evolutionary patterns of pancreatic ductal adenocarcinoma metastases in the liver or peritoneum.
Yao G et al.
Heliyon, 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
Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.
Jambhekar A et al.
Blood Neoplasia, 2024
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
Evaluation of clonal hematopoiesis in pediatric ADA-SCID gene therapy participants.
White SL et al.
Blood Advances, 2022
Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.
Soussi T
Cancer Research, 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
p53 Immunohistochemistry and Mutation Types Mismatching in High-Grade Serous Ovarian Cancer.
Park E et al.
Diagnostics (basel, Switzerland), 2022
Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases.
Soussi T et al.
Frontiers in Oncology, 2022
Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.
Kim J et al.
Frontiers in Oncology, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V 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
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
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
Comparing cell-free circulating tumor DNA mutational profiles of disease-free and nonresponders patients with oropharyngeal squamous cell carcinoma.
Khandelwal AR et al.
Laryngoscope Investigative Otolaryngology, 2020
Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer.
Hwang HJ et al.
Journal of Pathology and Translational Medicine, 2020
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Wappenschmidt B et al.
Geburtshilfe Und Frauenheilkunde, 2020
Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer.
Sheng S et al.
International Journal of Cancer, 2020
ClinVar: improvements to accessing data.
Landrum MJ et al.
Nucleic Acids Research, 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
A quantitative model to predict pathogenicity of missense variants in the TP53 gene.
Fortuno C et al.
Human Mutation, 2019
Deep targeted sequencing of TP53 in chronic lymphocytic leukemia: clinical impact at diagnosis and at time of treatment.
Brieghel C et al.
Haematologica, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL et al.
Bmc Cancer, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Analytic, Preanalytic, and Clinical Validation of p53 IHC for Detection of TP53 Missense Mutation in Prostate Cancer.
Guedes LB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Molecular Profiling of Multiple Primary Merkel Cell Carcinoma to Distinguish Genetically Distinct Tumors From Clonally Related Metastases.
Harms KL et al.
Jama Dermatology, 2017
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.
Viel A et al.
Ebiomedicine, 2017
Genomic portfolio of Merkel cell carcinoma as determined by comprehensive genomic profiling: implications for targeted therapeutics.
Cohen PR et al.
Oncotarget, 2016
Prevalence of low-penetrant germline TP53 D49H mutation in Japanese cancer patients.
Yamaguchi K et al.
Biomedical Research (tokyo, Japan), 2016