Associated Papers
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.
Tam B et al.
International Journal of Molecular Sciences, 2024
38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
36905130 (PubMed )
Supplement: MGG3-11-e2141-s004.xlsx › CI_Variants-Manual_Curation_
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A et al.
Human Mutation, 2022
Genomic Analysis Revealed Mutational Traits Associated with Clinical Outcomes in Osteosarcoma.
Chi X et al.
Cancer Management and Research, 2021
Genetic heterogeneity and actionable mutations in HER2-positive primary breast cancers and their brain metastases.
De Mattos-Arruda L et al.
Oncotarget, 2018
In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.
Borras E et al.
Cancer Prevention Research (philadelphia, Pa.), 2017
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Haraldsdottir S et al.
Nature Communications, 2017
Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.
Mathot L et al.
Cancer Research, 2017
28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ et al.
Human Mutation, 2015
Identification of cancer patients with Lynch syndrome: clinically significant discordances and problems in tissue-based mismatch repair testing.
Bartley AN et al.
Cancer Prevention Research (philadelphia, Pa.), 2012
Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
Ellison AR et al.
Nucleic Acids Research, 2004
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