Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä +18 more
wiley +1 more source
Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Gross, M. +9 more
core +1 more source
A Mutation in the MSH6 Subunit of the Saccharomyces cerevisiae MSH2-MSH6 Complex Disrupts Mismatch Recognition [PDF]
In yeast, MSH2 interacts with MSH6 to repair base pair mismatches and single nucleotide insertion/deletion mismatches and with MSH3 to recognize small loop insertion/deletion mismatches. We identified a msh6 mutation (msh6-F337A) that when overexpressed in wild type strains conferred a defect in both MSH2-MSH6- and MSH2-MSH3-dependent mismatch repair ...
J, Bowers +3 more
openaire +2 more sources
Interaction between the Msh2 and Msh6 Nucleotide-binding Sites in the Saccharomyces cerevisiae Msh2-Msh6 Complex [PDF]
Indirect evidence has suggested that the Msh2-Msh6 mispair-binding complex undergoes conformational changes upon binding of ATP and mispairs, resulting in the formation of Msh2-Msh6 sliding clamps and licensing the formation of Msh2-Msh6-Mlh1-Pms1 ternary complexes.
Victoria V, Hargreaves +4 more
openaire +2 more sources
MPTAC links alkylation damage signaling to sterol biosynthesis
Overproduction of reactive oxygen species (ROS) drives inflammation and mutagenesis. However, the role of the DNA damage response in immune responses remains largely unknown.
Tamaki Suganuma, Jerry L. Workman
doaj +1 more source
MSH2/MSH6 complex promotes error-free repair of AID-induced dU:G mispairs as well as error-prone hypermutation of A:T sites. [PDF]
Mismatch repair of AID-generated dU:G mispairs is critical for class switch recombination (CSR) and somatic hypermutation (SHM) in B cells. The generation of a previously unavailable Msh2(-/-)Msh6(-/-) mouse has for the first time allowed us to examine ...
Sergio Roa +5 more
doaj +1 more source
Somatic Hypermutation in Muts Homologue (Msh)3-, Msh6-, and Msh3/Msh6-Deficient Mice Reveals a Role for the Msh2–Msh6 Heterodimer in Modulating the Base Substitution Pattern [PDF]
Although the primary function of the DNA mismatch repair (MMR) system is to identify and correct base mismatches that have been erroneously introduced during DNA replication, recent studies have further implicated several MMR components in somatic hypermutation of immunoglobulin (Ig) genes.
M, Wiesendanger +3 more
openaire +2 more sources
An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
We identified a three-generation Russian family with Lynch syndrome with a novel germline variant of the MSH6 gene. An 84-year-old female was diagnosed with endometrial adenocarcinoma at the age of 49 years.
Olga A. Vostrukhina +9 more
doaj +1 more source
Two stochastic sensors were characterized and validated for the molecular identification and quantification of MLH1, MSH2, MSH6, PMS2 and KRAS in biological samples using two types of doped-graphene modified with maltodextrin.
Damaris-Cristina Gheorghe +3 more
doaj +1 more source
MGMT and MSH6 immunoexpression for functioning pituitary macroadenomas [PDF]
Knowledge of biological behavior is crucial for clinical management of functioning pituitary macroadenomas. For recurrent cases unresponsive to standard treatment, temozolomide (TMZ) has been used as a therapeutic alternative. MGMT (O6-methyl-guanine-DNA methyltransferase) and MSH6 (mutS homolog 6) immunoexpression have been linked to the response to ...
Micko, Alexander S. G. +6 more
openaire +2 more sources

