Associated Papers
The Somatic Mutational Landscape of Mismatch Repair Deficient Prostate Cancer.
Fang B et al.
Journal of Clinical Medicine, 2023
36675550 (PubMed )
Supplement: jcm-12-00623-s001.zip › Supplementary_Tables.pdf
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
De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.
Chen S et al.
Molecular Autism, 2020
33032641 (PubMed )
Supplement: 13229_2020_386_MOESM2_ESM.xlsx › Interaction_disruptions_proband
Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.
Wang T et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.
Geurts-Giele WR et al.
Molecular Genetics & Genomic Medicine, 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
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
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
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR et al.
Human Genetics, 2016
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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