منابع مشابه
MSH2 and MLH1 testing
DNA testing is recommended in families fulfilling at least “suspected HNPCC” criteria. After exclusion of FAP (characteristic FAP features include polyposis, congenital hypertrophy of the retinal pigment epithelium, cysts and osteomata of bones of the maxilla and mandible, desmoid tumours), immunohistochemical analyses (IHC) of MLH1, MSH2 and MSH6 expression in malignant tissues should be perfo...
متن کاملGenetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation.
About 5% of colorectal cancers are associated with the autosomal dominantly inherited cancer susceptibility syndrome hereditary non-polyposis colorectal cancer (HNPCC). 2 HNPCC is characterised by a high risk of developing colorectal cancer and endometrial cancer at a young age (cumulative lifetime risk 80-90% and 30-40%, respectively), and by an increased risk of developing various other tumou...
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 کاملFunctional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease caused by defects in the process of DNA mismatch repair (MMR), and mutations in the hMLH1 or hMSH2 genes are responsible for the majority of HNPCC. In addition to clear loss-of-function mutations conferred by nonsense or frameshift alterations in the coding sequence or by splice variants, genetic scree...
متن کاملLETTER TO JMG Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation
About 5% of colorectal cancers are associated with the autosomal dominantly inherited cancer susceptibility syndrome hereditary non-polyposis colorectal cancer (HNPCC). 2 HNPCC is characterised by a high risk of developing colorectal cancer and endometrial cancer at a young age (cumulative lifetime risk 80-90% and 30-40%, respectively), and by an increased risk of developing various other tumou...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2008
ISSN: 1897-4287
DOI: 10.1186/1897-4287-6-2-83