2002
DOI: 10.1038/sj.bjc.6600565
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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

Abstract: Hereditary non-polyposis colorectal cancer is an autosomal dominant condition due to germline mutations in DNA-mismatchrepair genes, in particular MLH1, MSH2 and MSH6. Here we describe the application of a novel technique for the detection of genomic deletions in MLH1 and MSH2. This method, called multiplex ligation-dependent probe amplification, is a quantitative multiplex PCR approach to determine the relative copy number of each MLH1 and MSH2 exon. Mutation screening of genes was performed in 126 colorectal… Show more

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Cited by 147 publications
(124 citation statements)
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“…The role of genomic rearrangements in the etiology of HNPCC has been under-investigated, due to the lack of technically simple and reliable approaches for detecting this type of mutation. Recently, with the development of PCR-based semi-quantitative approaches for detecting gene dosage, it has become apparent that a substantial proportion of HNPCC cases are associated with germ-line genomic rearrangements in the MMR genes, mainly MLH1and MSH2 (Papadopoulos et al, 1994;Nystrom-Lahti et al, 1995;Mauillon et al, 1996;Wijnen et al, 1998;Charbonnier et al, 2000;Charbonnier et al, 2002;Gille et al, 2002;Viel et al, 2002;Wang et al, 2002;Nakagawa et al, 2003;Plaschke et al, 2003;Pyatt et al, 2003;Taylor et al, 2003;Wang et al, 2003;Di Fiore et al, 2004;Miyaki et al, 2004;Thiffault et al, 2004;Casey et al, 2005). A germ-line genomic deletion in HNPCC was first identified as a founder mutation at MLH1 among the Finnish population (Nystrom-Lahti et al, 1995).…”
Section: Introductionmentioning
confidence: 99%
“…The role of genomic rearrangements in the etiology of HNPCC has been under-investigated, due to the lack of technically simple and reliable approaches for detecting this type of mutation. Recently, with the development of PCR-based semi-quantitative approaches for detecting gene dosage, it has become apparent that a substantial proportion of HNPCC cases are associated with germ-line genomic rearrangements in the MMR genes, mainly MLH1and MSH2 (Papadopoulos et al, 1994;Nystrom-Lahti et al, 1995;Mauillon et al, 1996;Wijnen et al, 1998;Charbonnier et al, 2000;Charbonnier et al, 2002;Gille et al, 2002;Viel et al, 2002;Wang et al, 2002;Nakagawa et al, 2003;Plaschke et al, 2003;Pyatt et al, 2003;Taylor et al, 2003;Wang et al, 2003;Di Fiore et al, 2004;Miyaki et al, 2004;Thiffault et al, 2004;Casey et al, 2005). A germ-line genomic deletion in HNPCC was first identified as a founder mutation at MLH1 among the Finnish population (Nystrom-Lahti et al, 1995).…”
Section: Introductionmentioning
confidence: 99%
“…PCR products with heteroduplex profiles were sequenced on an ABI 3100 Avant sequencer (Applied Biosystems, Foster City, CA, USA). Large deletions were screened using SALSA MLPA KIT P003 MLH1/MSH2 [28], according to the manufacturer's instructions (MRC-Holland, Amsterdam, The Netherlands). Genotyping of the 278 controls was performed by DHPLC analysis.…”
Section: Dhplc Mlpa and Sequencingmentioning
confidence: 99%
“…These include detection of trisomies [35], Duchene and Becker muscular dystrophy [36], centrifugal muscular dystrophy and also detection of deletions and duplications of one or more exons of the BRCA1 [37] and the MLH1 /MSH2 genes [32]. However, the protocols described in this chapter are robust and specific enough to be used as a routine diagnostic assay.…”
Section: Multiple Ligation-dependent Probe Amplification (Mlpa)mentioning
confidence: 99%
“…MLPA is a multiplex technique for determining copy numbers of genomic DNA sequences [32] and promoter methylation status [33], as well as mRNA profiling [34]. While genomic profiling is becoming increasingly important in both the research and diagnostic setting, routine detection methods for exon deletions and duplications are still lacking.…”
Section: Multiple Ligation-dependent Probe Amplification (Mlpa)mentioning
confidence: 99%
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