Associated Papers
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1
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_MOESM2_ESM.xlsx › Table_S2
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
39876053 (PubMed )
Supplement: supplement_1.pdf
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E et al.
Iscience, 2024
39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1
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
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._table_S1
T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations.
Vlachonikola E et al.
Frontiers in Oncology, 2023
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_4.xlsx › Sheet1
Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.
Gomes R et al.
Breast Cancer Research and Treatment, 2021
Correlation between ZBRK1/ZNF350 gene polymorphism and breast cancer.
Wu J et al.
Bmc Medical Genomics, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_BRAVO
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Equine-mucosal
Mutational processes shape the landscape of TP53 mutations in human cancer.
Giacomelli AO et al.
Nature Genetics, 2018
30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement
Molecular Profiling of Multiple Primary Merkel Cell Carcinoma to Distinguish Genetically Distinct Tumors From Clonally Related Metastases.
Harms KL et al.
Jama Dermatology, 2017
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
29267365 (PubMed )
Supplement: pone.0189881.s007.xlsx › S7a._Clear__1__all
TP53 Gene Status Affects Survival in Advanced Mycosis Fungoides.
Wooler G et al.
Frontiers in Medicine, 2016
High frequency of complex TP53 mutations in CNS metastases from breast cancer.
Lo Nigro C et al.
British Journal of Cancer, 2012
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