Associated Papers
Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.
Nero C et al.
Targeted Oncology, 2026
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer.
Flynn A et al.
Molecular Systems Biology, 2024
39026103 (PubMed )
Supplement: 44320_2024_54_MOESM1_ESM.xlsx › TableS1
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas.
Kramer C et al.
The Journal of Pathology, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
MSH6 germline mutations leading to Lynch syndrome-associated cholangiocarcinoma: a case report.
Zhang Z et al.
Frontiers in Oncology, 2024
A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report.
Cui J et al.
Diagnostic Pathology, 2023
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM3_ESM.xlsx › Supp_Table_GL_MIS_vs_SOM
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.
Hallermayr A et al.
Frontiers in Oncology, 2022
36636551 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_5
Chemotherapy and mismatch repair deficiency cooperate to fuel TP53 mutagenesis and ALL relapse.
Yang F et al.
Nature Cancer, 2021
Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
Choi MC et al.
Cancer Research and Treatment, 2020
Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.
Barresi V et al.
Cancers, 2019
Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.
Petljak M et al.
Cell, 2019
30849372 (PubMed )
Supplement: mmc4.xlsx › Coding_mutations
A panoply of errors: polymerase proofreading domain mutations in cancer.
Rayner E et al.
Nature Reviews. Cancer, 2016
Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing.
Ferguson SE et al.
Cancer, 2014
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