Population carrier frequency of hMSH2 and hMLH1 mutations
نویسندگان
چکیده
منابع مشابه
A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations
Hereditary NonPolyposis Colorectal Cancer (Lynch syndrome) is an autosomal dominant disease caused by germline mutations in a class of genes deputed to maintain genomic integrity during cell replication, mutations result in a generalized genomic instability, particularly evident at microsatellite loci (Microsatellite Instability, MSI). MSI is present in 85-90% of colorectal cancers that occur i...
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EDITOR—Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is a common autosomal dominant predisposition to colorectal cancer. Clinical diagnostic features of sporadic and HNPCC associated colorectal cancer do not diVer significantly and until recently the identification of HNPCC patients was based mainly on their family history. Because of the importance for relatives of HNPCC patients...
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The prevalence of pathological germline mutations in colorectal cancer has been widely studied, as germline mutations in the DNA mismatch repair genes hMLH1 and hMSH2 confer a high risk of colorectal cancer. However, because the sample size and population of previous studies are very different from each other, the conclusions still remain controversial. In this paper, Databases such as PubMed w...
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Defects in the function of mismatch repair (MMR) genes result in genetic instability, a common feature of malignant progression. This study was conducted to determine the frequency of genetic instability [defined as microsatellite instability (MSI)] and to evaluate the sensitivity/specificity of immunohistochemistry in predicting the deficiency in MMR genes in renal cortical tumors. A total of ...
متن کاملApoptosis induced by overexpression of hMSH2 or hMLH1.
Mutations of the mismatch repair genes hMSH2 and hMLH1 have been found in a high proportion of individuals with hereditary nonpolyposis colon cancer (HNPCC), establishing the link between mismatch repair and cancer. Tumor cell lines that are deficient in mismatch repair develop a mutator phenotype that appears to drive the accumulation of mutations required for tumor development. However, mutat...
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ژورنال
عنوان ژورنال: British Journal of Cancer
سال: 2000
ISSN: 0007-0920,1532-1827
DOI: 10.1054/bjoc.2000.1520