Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.
Galante PAF et al.
Lancet Regional Health. Americas, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.
Wong D et al.
Nature Communications, 2024
Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.
Wong D et al.
Cancer Discovery, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.
Rogoża-Janiszewska E et al.
Breast Cancer (tokyo, Japan), 2021
Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience.
Pondrom M et al.
Pediatric Blood & Cancer, 2020
Genetic features and application value of next generation sequencing in the diagnosis of synchronous multifocal lung adenocarcinoma.
Chen X et al.
Oncology Letters, 2020
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study.
O'Neill AF et al.
Pediatric Blood & Cancer, 2018
Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.
Samuel N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Villani A et al.
The Lancet. Oncology, 2016
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.
Hettmer S et al.
Cancer, 2014
Routine TP53 testing for breast cancer under age 30: ready for prime time?
McCuaig JM et al.
Familial Cancer, 2012
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.
Villani A et al.
The Lancet. Oncology, 2011
Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.
Tabori U et al.
Cancer Research, 2007
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
Splice mutations in the p53 gene: case report and review of the literature.
Holmila R et al.
Human Mutation, 2003