## Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is often caused by a deficiency in DNA mismatch repair. By using conventional methods of mutation analysis, point mutations in the DNA mismatch repair genes __MSH2__ and __MLH1__ have been detected in up to 64% of patients suspected of H
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
β Scribed by Gille, J J P; Hogervorst, F B L; Pals, G; Wijnen, JTh; van Schooten, R J; Dommering, C J; Meijer, G A; Craanen, M E; Nederlof, P M; de Jong, D; McElgunn, C J; Schouten, J P; Menko, F H
- Book ID
- 118016435
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 180 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0007-0920
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Gene dosage abnormalities account for a significant proportion of the mutations in genes tested in DNA diagnostic laboratories. Detection of these changes has proved a challenge as the methods available to date are time consuming or unreliable. The multiplex ligation-dependent probe assay (MLPA) is
Germline mutations in the MLH1 and MSH2 genes, account for the majority of HNPCC families. We have screened such families from Spain by using DGGE analysis and subsequent direct sequencing techniques. In eight families we identified six novel MLH1 and two novel MSH2 mutations comprising one frame sh
Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are pred
## Abstract HNPCC is an autosomal dominantly inherited cancerβsusceptibility syndrome that confers an increased risk for colorectal cancer and endometrial cancer at a young age. It also entails an increased risk of a variety of other tumors, such as ovarian, gastric, uroepithelial and biliary tract
A method for detection of large genomic deletions in the MSH2 and MLH1 genes based on multiplex PCR and quantitative evaluation of PCR products is presented. All 35 exons of MSH2 and MLH1 were screened simultaneously in seven PCR reactions, each of them including primers for both genes. The method i