Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1295
Abstract: Abstract Background Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes. Methods We performed next‐generation sequencing on… read more here.
Keywords: mlh1; genetic screening; identification novel; novel pathogenic ... See more keywords
Epigenetic silencing of MLH1 in endometrial cancers is associated with larger tumor volume, increased rate of lymph node positivity and reduced recurrence-free survival.
Sign Up to like & getrecommendations! Published in 2017 at "Gynecologic oncology"
DOI: 10.1016/j.ygyno.2017.07.003
Abstract: OBJECTIVES To determine the relationship between mismatch repair (MMR) classification and clinicopathologic features including tumor volume, and explore outcomes by MMR class in a contemporary cohort. METHODS Single institution cohort evaluating MMR classification for endometrial… read more here.
Keywords: mlh1; volume; tumor volume; epigenetic mmr ... See more keywords
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2018.47
Abstract: PurposeConstitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a… read more here.
Keywords: syndrome families; methylation; mlh1; families heritable ... See more keywords
A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/s41439-018-0002-1
Abstract: Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient… read more here.
Keywords: mlh1; variant; young japanese; japanese patient ... See more keywords
The unstructured linker of Mlh1 contains a motif required for endonuclease function which is mutated in cancers
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2212870119
Abstract: Significance DNA mismatch repair (MMR) prevents mutations caused by DNA-replication errors and suppresses multiple types of cancers. During MMR, the Mlh1-Pms1 complex is recruited to mispair-containing DNA and nicks the newly replicated DNA strand, targeting… read more here.
Keywords: linker mlh1; linker; unstructured linker; required endonuclease ... See more keywords
A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.
Sign Up to like & getrecommendations! Published in 2023 at "Nucleic acids research"
DOI: 10.1093/nar/gkad418
Abstract: DNA mismatch repair (MMR) is essential for correction of DNA replication errors. Germline mutations of the human MMR gene MLH1 are the major cause of Lynch syndrome, a heritable cancer predisposition. In the MLH1 protein,… read more here.
Keywords: mlh1; dna mismatch; mismatch repair; repair ... See more keywords
Loss of expression of MLH1 in non‐dysplastic crypts is a harbinger of neoplastic progression in sessile serrated adenomas/polyps
Sign Up to like & getrecommendations! Published in 2019 at "Histopathology"
DOI: 10.1111/his.13874
Abstract: Dysplasia in colonic sessile serrated adenomas (SSAs)/sessile serrated polyps often shows loss of MLH1 expression as determined with immunohistochemistry, but the significance of loss of MLH1 expression in non‐dysplastic crypts in these polyps is less… read more here.
Keywords: mlh1; non dysplastic; expression; sessile serrated ... See more keywords
FANCD2-Associated Nuclease 1 Partially Compensates for the Lack of Exonuclease 1 in Mismatch Repair
Sign Up to like & getrecommendations! Published in 2021 at "Molecular and Cellular Biology"
DOI: 10.1128/mcb.00303-21
Abstract: Germline mutations in the mismatch repair (MMR) genes MSH2, MSH6, MLH1, and PMS2 are linked to cancer of the colon and other organs, characterized by microsatellite instability and a large increase in mutation frequency. Unexpectedly,… read more here.
Keywords: fancd2 associated; mismatch repair; mmr; associated nuclease ... See more keywords
Unique MLH1 mutations in colonic adenomas in an obligate germline Lynch syndrome carrier
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2019-206234
Abstract: Background An obligate germline Lynch syndrome carrier had four colonic adenomas removed. Materials and methods The adenomas were evaluated for grade of dysplasia, MLH1, PMS2, MSH2 and MSH6 protein expression, microsatellite instability (MSI), BRAF, methylation… read more here.
Keywords: mlh1; grade dysplasia; colonic adenomas; lynch syndrome ... See more keywords
Immunohistochemical Analysis of Mismatch Repair Gene Proteins in Early Gastric Cancer Based on Microsatellite Status
Sign Up to like & getrecommendations! Published in 2020 at "Digestion"
DOI: 10.1159/000510679
Abstract: Background: Microsatellite instability (MSI) is a major pathway involved in gastric carcinogenesis and is observed in 10–20% of early gastric cancers (EGCs). Early detection of EGCs with an MSI-high phenotype would be useful for elucidating… read more here.
Keywords: mlh1; loss; mismatch repair; expression ... See more keywords
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
Sign Up to like & getrecommendations! Published in 2018 at "BMC Cancer"
DOI: 10.1186/s12885-018-4489-0
Abstract: BackgroundLynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for… read more here.
Keywords: mlh1; mlh1 promoter; endometrial cancer; cancer ... See more keywords