Results 171 to 180 of about 23,834 (214)
Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome. [PDF]
Apuhan T +5 more
europepmc +1 more source
Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers [PDF]
Background: Germline mutations in MSH6 account for 10%–20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations.
John Potter, Susan M Farrington
exaly +8 more sources
Mlh1 interacts with both Msh2 and Msh6 for recruitment during mismatch repair [PDF]
Eukaryotic DNA mismatch repair (MMR) initiates through mispair recognition by the MutS homologs Msh2-Msh6 and Msh2-Msh3 and subsequent recruitment of the MutL homologs Mlh1-Pms1 (human MLH1-PMS2).
Felipe A Calil +2 more
exaly +2 more sources
A large majority of constitutional mutations in hereditary non-polyposis colorectal cancer (HNPCC) are because of the MHL 1 or MSH 2 genes. In a lower fraction of cases, another gene of the mismatch repair (MMR) machinery, MSH6, may be responsible ...
Monica Pedroni +2 more
exaly +3 more sources
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NordiQC Assessments of MSH6 Immunoassays
Applied Immunohistochemistry & Molecular Morphology, 2018This paper is number 4 in a series developed through a partnership between ISIMM and Nordic immunohistochemical Quality Control for the purpose of reporting research assessing the performance characteristics of immunoassays in an external proficiency testing program.
Vyberg, Mogens +3 more
openaire +4 more sources
A novel infram deletion in MSH6 gene in glioma: Conversation on MSH6 mutations in brain tumors
Journal of Cellular Physiology, 2018AbstractObjective and backgroundHistological and molecular information and biopsy help in the diagnosis of the type and grade of tumors and increase the value of estimation of the biological behavior of tumors. In this study, we focused on a consanguineous Iranian Family with high prevalence of brain tumors in their pedigree and reviewed the literature
Zeinab Deris Zayeri +4 more
openaire +2 more sources
A Homozygous MSH6 Mutation in a Child with Café-au-Lait Spots, Oligodendroglioma and Rectal Cancer
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition due to heterozygous germline mutations in DNA mismatch repair genes, in particular MLH1, MSH2 and MSH6.
Gertjan Kaspers +2 more
exaly +2 more sources

