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
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Baldazzi C et al.
International Journal of Molecular Sciences, 2025
39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1
Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.
Pavlova S et al.
Hemasphere, 2025
39840379 (PubMed )
Supplement: HEM3-9-e70065-s008.xlsx › Table_S7
Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer.
Kjeldsen MK et al.
Cancer Research Communications, 2024
39591206 (PubMed )
Supplement: crc-24-0294_supplementarygenetable_s1_suppst1.xlsx › SupplementaryGeneTableS1
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants
Patient-Derived Tumor Xenograft Study with CDK4/6 Inhibitor Plus AKT Inhibitor for the Management of Metastatic Castration-Resistant Prostate Cancer.
Kase AM et al.
Molecular Cancer Therapeutics, 2024
Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.
Pommerenke C et al.
Cells, 2024
38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6
Low-burden TP53 mutations in CLL: clinical impact and clonal evolution within the context of different treatment options.
Malcikova J et al.
Blood, 2021
33945616 (PubMed )
Supplement: 10.1182-2020009530_bloodbld2020009530-suppl1.xlsx › Table_S6
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Ikegami M et al.
Communications Biology, 2021
34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Whole_exome_frozen
Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.
Zhang S et al.
Frontiers in Oncology, 2021
34221970 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_S3
Modeling of Cisplatin-Induced Signaling Dynamics in Triple-Negative Breast Cancer Cells Reveals Mediators of Sensitivity.
Heijink AM et al.
Cell Reports, 2019
31461651 (PubMed )
Supplement: mmc5.pdf
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
Bertelsen B et al.
Npj Genomic Medicine, 2019
31263571 (PubMed )
Supplement: 41525_2019_87_MOESM1_ESM.pdf
Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.
Bolli N et al.
Leukemia, 2018
29789651 (PubMed )
Supplement: 41375_2018_37_MOESM18_ESM.xlsx › Supplementary_Table_S5.txt
Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.
Stoltze U et al.
Plos One, 2018
Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.
Yi Z et al.
Scientific Reports, 2017
28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf
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