MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome
نویسندگان
چکیده
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 Programa de Cancer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina
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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AIM To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS We performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point mutation c.392C>G in the codon 131 of...
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Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), is the most common known genetic syndrome for colorectal cancer (CRC). MLH1/MSH2 mutations underlie approximately 90% of Lynch syndrome families. A total of 24% of these mutations are missense. Interpreting missense variation is extremely challenging. We have therefore developed multivariate analysis of protein polymorp...
متن کاملCharacterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.
It has been reported that large genomic deletions in the MLH1 and MSH2 genes are a frequent cause of Lynch syndrome in certain populations. Here, a cohort has been screened and two new founder rearrangements have been found in the MSH2 gene. These mutations have been characterized by break point determination, haplotype analysis, and genotype-phenotype correlation. Mutations have been identifie...
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عنوان ژورنال:
دوره 6 شماره
صفحات -
تاریخ انتشار 2016