Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.
Usui Y et al.
Blood Cancer Discovery, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.
Kaur K et al.
The Journal of Investigative Dermatology, 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
Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.
Maloberti T et al.
Diagnostics (basel, Switzerland), 2024
Implication of cytoplasmic p53 expression in pulmonary neuroendocrine carcinoma using next-generation sequencing analysis.
Jimbo N et al.
Histopathology, 2024
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.
Catherwood MA et al.
Frontiers in Oncology, 2022
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
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.
Pappula AL et al.
Cancers, 2021
Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.
Liu Y et al.
International Journal of Molecular Sciences, 2021
Breast Cancer Patient Prognosis Is Determined by the Interplay between TP53 Mutation and Alternative Transcript Expression: Insights from TP53 Long Amplicon Digital PCR Assays.
Lasham A et al.
Cancers, 2021
TP53 Mutation Analysis in Gastric Cancer and Clinical Outcomes of Patients with Metastatic Disease Treated with Ramucirumab/Paclitaxel or Standard Chemotherapy.
Graziano F et al.
Cancers, 2020
Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.
Quevedo R et al.
Genome Medicine, 2020
The Role of c-Met as a Biomarker and Player in Innate and Acquired Resistance in Non-Small-Cell Lung Cancer: Two New Mutations Warrant Further Studies.
Van Der Steen N et al.
Molecules (basel, Switzerland), 2019
Functional characterization of novel germline TP53 variants in Swedish families.
Kharaziha P et al.
Clinical Genetics, 2019
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
Molecular alterations associated with metastases of solid pseudopapillary neoplasms of the pancreas.
Amato E et al.
The Journal of Pathology, 2019
Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.
Tong L et al.
Theranostics, 2019
A case report of adult cerebellar high-grade glioma with H3.1 K27M mutation: a rare example of an H3 K27M mutant cerebellar tumor.
Funata N et al.
Brain Tumor Pathology, 2018
Cell-free circulating tumor DNA supplementing tissue biopsies for identification of targetable mutations: Implications for precision medicine and considerations for reconciling results.
Hicks JK et al.
Lung Cancer (amsterdam, Netherlands), 2017
High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.
Cho SY et al.
Experimental & Molecular Medicine, 2017
In situ mutation detection and visualization of intratumor heterogeneity for cancer research and diagnostics.
Grundberg I et al.
Oncotarget, 2013
[High resolution melting analysis for detecting p53 gene mutations in patients with non-small cell lung cancer].
Chen Z et al.
Zhongguo Fei Ai Za Zhi = Chinese Journal of Lung Cancer, 2011
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.
Pekova S et al.
Leukemia Research, 2011
Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content.
Milbury CA et al.
The Journal of Molecular Diagnostics : Jmd, 2011
High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer.
Holstege H et al.
Cancer Research, 2009
Mutational analysis of TP53 and p21 in familial and sporadic ovarian cancer in Japan.
Amikura T et al.
Gynecologic Oncology, 2006
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Khan SG et al.
Carcinogenesis, 2006
Effect of mutated TP53 on response of advanced breast cancers to high-dose chemotherapy.
Bertheau P et al.
Lancet (london, England), 2002
Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population.
Sekine M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2001