Lynch Syndrome (HNPCC) and Microsatellite Instability
نویسندگان
چکیده
منابع مشابه
Lynch Syndrome (HNPCC) and Microsatellite Instability
A departure from the concept of simple adenoma to carcinoma sequence is the realization that colorectal cancer (CRC) develops through at least two major molecular pathogenic pathways, namely chromosomal instability (CIN) and microsatellite instability (MSI) [1,2]. The mechanisms underlying CIN might have been the first to be deciphered but they are just being understood in detail. It is propose...
متن کاملLynch syndrome (HNPCC) and microsatellite instability analysis guidelines.
The “International Workshop on Diagnostic Guidelines for Hereditary Non-Polyposis Colorectal Cancer and Microsatellite Instability” represents the third workshop in this series. In November 1996, NCI’s DCP convened a workshop entitled “Intersection of Pathology and Genetics in HNPCC Syndrome.” In December 1997, another workshop, “International Workshop on Microsatellite Instability and Replicat...
متن کاملLynch syndrome (HNPCC)
Lynch syndrome, also referred to as hereditary non-polyposis colorectal cancer (HNPCC), accounts for somewhere between 2 and 5% of all CRC. It has been shown that Lynch syndrome (LS) is a result of germline mutations in genes involved in DNA mismatch repair (MMR) MSH2, MLH1, MSH6, and PMS2, whereas as HNPCC refers to families that adhere to the Amsterdam criteria or iterations of it. More recen...
متن کامل[Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry].
BACKGROUND Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application of clinical criteria. To increase the rate of identification of mutations, the use of molecular studies as Microsatellite Instability (MSI) and Immunohistochemistry (IHC) in the tumor has been proposed. AIM To demonstrate the usefulness of MSI and IHC in the detection of mutations in patient...
متن کاملHereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
BACKGROUND Hereditary nonpolyposis colorectal cancer HNPCC, Lynch syndrome) is a genetic disease of autosomal dominant inheritance. It is caused by a mutation in one of four genes of the DNA mismatch repair system and confers a markedly increased risk for various types of cancer, particularly of the colon and the endometrium. Its prevalence in the general population is about 1 in 500, and it ca...
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ژورنال
عنوان ژورنال: Disease Markers
سال: 2004
ISSN: 0278-0240,1875-8630
DOI: 10.1155/2004/486032