Associated Papers
Mutations in Mismatch Repair Genes and Microsatellite Instability Status in Pancreatic Cancer.
Emelyanova M et al.
Cancers, 2024
38893230 (PubMed )
Supplement: cancers-16-02111-s001.zip › Supplementary_Table_S1_31052024.pdf
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11
RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.
Sora V et al.
Protein Science : a Publication of the Protein Society, 2023
Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.
Lieb V et al.
Cells, 2022
36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › All
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › All
Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
Bruzas S et al.
Cancers, 2021
34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL et al.
Bmc Cancer, 2018
29945567 (PubMed )
Supplement: 12885_2018_4573_MOESM1_ESM.xlsx › Supplemental_Table_2
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.
Kraus C et al.
International Journal of Cancer, 2015
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
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