Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
39717660 (PubMed )
Supplement: mmc4.xlsx › Raw_data
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J et al.
Annals of Clinical and Translational Neurology, 2023
37194416 (PubMed )
Supplement: ACN3-10-1046-s001.xlsx › Sheet1
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MSH6
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Houlleberghs H et al.
Plos Genetics, 2017
Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.
Pérez-Cabornero L et al.
The Journal of Molecular Diagnostics : Jmd, 2013
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H et al.
Journal of Biomedical Science, 2013
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
Perez-Cabornero L et al.
European Journal of Cancer (oxford, England : 1990), 2009
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