Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
LINE-1 Activation in Endocrine-Related Cancers: Molecular Mechanisms and Translational Implications.
Pessoa BS et al.
Molecular Cancer Research : Mcr, 2026
The TP53 gene contains a diversity box that makes it more than a tumor suppressor.
Levine AJ et al.
Cell Death and Differentiation, 2026
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
Zhou Y et al.
Orphanet Journal of Rare Diseases, 2026
Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil.
Pinto EM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2026
European Colonial Echoes in Cancer Risk: Lessons from the TP53 p.R337H Founder Variant in Brazil.
Carvajal-Carmona LG
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2026
Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Pal T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
CP-31398 restored the functional condensates of R175H p53 by stabilizing the zinc-binding domain and 251-258 segment.
Liu Y et al.
Colloids and Surfaces. B, Biointerfaces, 2026
Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations.
Kratz CP et al.
Journal of the National Cancer Institute, 2026
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
DNA Damage and Repair in Thyroid Physiology and Disease.
Arczewska KD et al.
Endocrine Reviews, 2026
Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.
Elbaz Younes I et al.
Cancers, 2026
Beyond 1100delC: distinct CHEK2 variants and unique cancer phenotypes in Northeast Brazil.
Noronha MM et al.
Familial Cancer, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
The impact of p53 mutation on tumor immune evasion: mechanistic insights and clinical implications.
Liang L et al.
Frontiers in Immunology, 2026
Genotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.
Yamazaki F et al.
Cancer Science, 2025
Description of six cases of melanoma in 512 patients with germline pathogenic variants in the TP53 gene.
Callegaro EAC et al.
Familial Cancer, 2025
The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.
Yin K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Dominant-Negative Effects of p53 R337 Variants in Li-Fraumeni Syndrome: Impact on Tetramer Formation and Transcriptional Activity.
Kamada R et al.
Chembiochem : a European Journal of Chemical Biology, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 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
Transfer Learning for Survival-based Clustering of Predictors with an Application to TP53 Mutation Annotation.
Liu X et al.
Biorxiv : the Preprint Server for Biology, 2025
Radiotherapy results in decreased time to second cancer in children with Li Fraumeni syndrome.
Woodward ER et al.
Journal of the National Cancer Institute, 2025
TP53 P72R Polymorphism Is Associated With P53 Protein Expression in Fatal Prostate Cancer: A Novel Case Report and Review of the Literature.
Asili P et al.
Cureus, 2025
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.
Ribeiro AAF et al.
Scientific Reports, 2025
Evaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome.
Sodde P et al.
Journal of Medical Genetics, 2025
Mutational Disruption of TP53: A Structural Approach to Understanding Chemoresistance.
Alsulami AF
International Journal of Molecular Sciences, 2025
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.
Kasper E et al.
International Journal of Cancer, 2025
The argument for screening programs in previvors with Li-Fraumeni syndrome.
Omran M et al.
Expert Review of Anticancer Therapy, 2025
Genomic Landscape of Non-Squamous Non-Small Cell Lung Cancer in a Southern Brazilian Population: High PDL-1 Expression and Enrichment of EGFR and TP53 Mutations.
Lima Lopes G et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2025
Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.
Finn E et al.
Esmo Open, 2025
The promises and pitfalls of automated variant interpretation: a comprehensive review.
Costa M et al.
Briefings in Bioinformatics, 2025
In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer.
Vanikova L et al.
Scientific Reports, 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
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing.
Perrone E et al.
Journal of Human Genetics, 2025
The TP53 tumor suppressor gene: From molecular biology to clinical investigations.
Baliakas P et al.
Journal of Internal Medicine, 2025
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.
Li J et al.
Npj Genomic Medicine, 2025
Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.
Nedjadi T et al.
Scientific Reports, 2025