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
An open-label, phase IB/II study of abemaciclib with paclitaxel for tumors with CDK4/6 pathway genomic alterations.
Kim KH et al.
Esmo Open, 2025
39874900 (PubMed )
Supplement: mmc1.xlsx › Mutation
Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome.
Abe N et al.
Familial Cancer, 2025
Cancer risk in carriers of TP53 germline variants grouped into different functional categories.
Müntnich LJ et al.
Jnci Cancer Spectrum, 2025
39873732 (PubMed )
Supplement: pkaf008_supplementary_data.zip › Supplementary_Table_2_R1.xlsx › Tabelle1
Prevalence and Associations of Co-occurrence of NFE2L2 Mutations and Chromosome 3q26 Amplification in Lung Cancer.
Liu J et al.
Global Medical Genetics, 2024
38628662 (PubMed )
Supplement: 10-1055-s-0044-1786004-s2400018.pdf
Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.
Butz H et al.
Scientific Reports, 2023
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.2.
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes.
Follo MY et al.
Leukemia, 2019
Select a paper to view details