Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome
Background A positive family history, germline mutations in DNA mismatch repair genes, tumours with high microsatellite instability, and loss of mismatch repair protein expression are the hallmarks of hereditary non-polyposis colorectal cancer (Lynch syndrome). However, in ∼10-15% of cases of suspec...
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| Main Authors: | , , , , , , , , , , , |
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| Corporate Author: | |
| Format: | Article (Journal) |
| Language: | English |
| Published: |
28 June 2011
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| In: |
Journal of medical genetics
Year: 2011, Volume: 48, Issue: 8, Pages: 513-519 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmedgenet-2011-100050 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jmedgenet-2011-100050 Verlag, lizenzpflichtig, Volltext: https://jmg.bmj.com/content/48/8/513 
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| Author Notes: | Monika Morak, Udo Koehler, Hans Konrad Schackert, Verena Steinke, Brigitte Royer-Pokora, Karsten Schulmann, Matthias Kloor, Wilhelm Höchter, Josef Weingart, Cortina Keiling, Trisari Massdorf, Elke Holinski-Feder, the German HNPCC Consortium |
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| 245 | 1 | 0 | |a Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome |c Monika Morak, Udo Koehler, Hans Konrad Schackert, Verena Steinke, Brigitte Royer-Pokora, Karsten Schulmann, Matthias Kloor, Wilhelm Höchter, Josef Weingart, Cortina Keiling, Trisari Massdorf, Elke Holinski-Feder, the German HNPCC Consortium |
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| 520 | |a Background A positive family history, germline mutations in DNA mismatch repair genes, tumours with high microsatellite instability, and loss of mismatch repair protein expression are the hallmarks of hereditary non-polyposis colorectal cancer (Lynch syndrome). However, in ∼10-15% of cases of suspected Lynch syndrome, no disease-causing mechanism can be detected. - Methods Oligo array analysis was performed to search for genomic imbalances in patients with suspected mutation-negative Lynch syndrome with MLH1 deficiency in their colorectal tumours. - Results and conclusion A deletion in the LRRFIP2 (leucine-rich repeat flightless-interacting protein 2) gene flanking the MLH1 gene was detected, which turned out to be a paracentric inversion on chromosome 3p22.2 creating two new stable fusion transcripts between MLH1 and LRRFIP2. A single-nucleotide polymorphism in MLH1 exon 8 was expressed from both alleles, initially pointing to appropriate MLH1 function at least in peripheral cells. In a second case, an inherited duplication of the MLH1 gene region resulted in constitutional MLH1 promoter methylation. Constitutional MLH1 promoter methylation may therefore in rare cases be a heritable disease mechanism and should not be overlooked in seemingly sporadic patients. | ||
| 650 | 4 | |a cancer: colon | |
| 650 | 4 | |a epigenetics | |
| 650 | 4 | |a gene rearrangement | |
| 650 | 4 | |a hereditary colorectal cancer | |
| 650 | 4 | |a Lynch syndrome | |
| 650 | 4 | |a microarray | |
| 650 | 4 | |a molecular genetics | |
| 650 | 4 | |a sequence inversion | |
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