Associated Papers
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
41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM1_ESM.xlsx › Table_S1
Epithelial Abnormalities in the High-Risk Fallopian Tube of a Rare TP53/BRCA2 Li-Fraumeni Syndrome Patient With Multiple Tumors.
Ritting ML et al.
Jco Precision Oncology, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
39780207 (PubMed )
Supplement: 40246_2024_714_MOESM4_ESM.xlsx › Supplementary_Table_1
Immunohistochemistry of p53 surrogates TP53 mutation as an accurate predictor for early-relapse of surgically resected stage I-III lung adenocarcinoma.
Kurihara Y et al.
Jtcvs Open, 2024
Whole exome sequencing in relapsed or refractory childhood cancer: case series.
Thangpong R et al.
Asian Biomedicine : Research, Reviews and News, 2024
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs
p53 null phenotype is a "positive result" in urothelial carcinoma in situ.
Sangoi AR et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Gao F et al.
Genome Research, 2020
32817165 (PubMed )
Supplement: supp_gr.249599.119_Supplementary_Table_S10.xlsx › DNMs_in_validation_set
Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.
Li H et al.
Frontiers in Oncology, 2020
33747896 (PubMed )
Supplement: Table_1.xlsx › Table_S2
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort.
Mai PL et al.
Jama Oncology, 2017
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
Select a paper to view details