Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation
نویسندگان
چکیده
منابع مشابه
Biallelic 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 ...
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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...
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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...
متن کاملNovel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome
Background. Lynch Syndrome (LS) is characterized by germline mutations in the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. This syndrome is inherited in an autosomal dominant pattern and is characterized by early onset colorectal cancer (CRC) and extracolonic tumors. The aim of this study was to identify mutations in MMR genes in three Mexican patients with LS. Methods. Immunohis...
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ژورنال
عنوان ژورنال: Cancer Medicine
سال: 2018
ISSN: 2045-7634
DOI: 10.1002/cam4.1285