Medullary carcinoma of the pancreas in a man with hereditary nonpolyposis colorectal cancer due to a mutation of the MSH2 mismatch repair gene
β Scribed by Niamh Banville; Robert Geraghty; Edward Fox; Dermot T. Leahy; Andrew Green; Denise Keegan; Justin Geoghegan; Diarmuid O'Donoghue; John Hyland; Kieran Sheahan
- Book ID
- 116534258
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 849 KB
- Volume
- 37
- Category
- Article
- ISSN
- 1532-8392
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## Abstract A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, __MSH2__, __MLH1__, __MSH6__, and __PMS2__, identified 48 genomic rearrangements causat
Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-stran
## Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal disorder caused by mutations in DNA mismatch repair (MMR) genes. Tumors of the HNPCCβspectrum are associated with microsatellite instability (MSI) and loss of MMR protein expression. Lymphomas are not considered to be HNP