Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression
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چکیده
منابع مشابه
Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression
Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) wit...
متن کاملBiallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
BACKGROUND A positive family history, germline mutations in DNA mismatch repair genes, tumours with high microsatellite instability, and loss of mismatch repair protein expression are the hallmarks of hereditary non-polyposis colorectal cancer (Lynch syndrome). However, in ~10-15% of cases of suspected Lynch syndrome, no disease-causing mechanism can be detected. METHODS Oligo array analysis ...
متن کاملExpression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
PURPOSE Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that...
متن کاملMLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome
1 Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway, 2 Unit of Muscle Biology, Lund Transgenic Core Facility/Reproductive Immunology, Department of Experimental Medical Science, Lund University, Lund, Sweden, 3 Institute of Basic Sciences and Experimental Medicine (ICBME), Instituto Universitario Hospital Italiano, Buenos Aires, Argentina, 4 Prog...
متن کاملPrediction of MLH1 and MSH2 mutations in Lynch syndrome.
CONTEXT Lynch syndrome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2. OBJECTIVES To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical model to predict the likelihood of finding a mutation in at-risk patients. DESIGN, SETTING, AND PARTICIPANTS Personal and family history were obtained for 191...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2015
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.22785