Associated Papers
Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.
Bu R et al.
International Journal of Molecular Sciences, 2026
41751868 (PubMed )
Supplement: ijms-27-01732-s001.zip › ijms-4074002-supplementary-updated.pdf
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
Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.
Börcsök J et al.
The Journal of Clinical Investigation, 2025
40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › SFigure5E-G
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
Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.
Sukpan P et al.
Journal of Personalized Medicine, 2023
Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.
Cheng CK et al.
Communications Biology, 2023
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
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set
Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.
Choi EJ et al.
Haematologica, 2022
ctDNA in Neuroendocrine Carcinoma of Gastroenteropancreatic Origin or of Unknown Primary: The CIRCAN-NEC Pilot Study.
Gerard L et al.
Neuroendocrinology, 2021
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
Scheckenbach K et al.
Oral Oncology, 2014
Accurate sequencing by hybridization for DNA diagnostics and individual genomics.
Drmanac S et al.
Nature Biotechnology, 1998
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