Associated Papers
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.
Abdelmaksoud-Dammak R et al.
Familial Cancer, 2024
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
Akrout F et al.
Frontiers in Oncology, 2023
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.
Mahdouani M et al.
Plos One, 2022
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
Functional analysis of clinical BARD1 germline variants.
Toh MR et al.
Cold Spring Harbor Molecular Case Studies, 2019
31371347 (PubMed )
Supplement: supp_mcs.a004093_Supplemental_Materials.docx
Targeted next generation sequencing screening of Lynch syndrome in Tunisian population.
Ben Sghaier R et al.
Familial Cancer, 2019
Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.
Toh MR et al.
Jnci Cancer Spectrum, 2018
31360874 (PubMed )
Supplement: pky054_supp.docx
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2013
Mutation rates, spectra, and genome-wide distribution of spontaneous mutations in mismatch repair deficient yeast.
Lang GI et al.
G3 (bethesda, Md.), 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
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