It has recently been suggested that large genomic rearrangements account for 10-20% of all MSH2 mutations, and a lower proportion of all MLH1 mutations, among individuals with Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC). These rearrangements are notoriously difficult to detect
Identification of new genetic alterations in MLH1, MSH2 and MSH6 using IHC and HRM analysis in Lynch syndrome-suspected patients
β Scribed by A Mazurek; A Fiszer-Kierzkowska; M Budryk
- Book ID
- 115027859
- Publisher
- BioMed Central
- Year
- 2012
- Tongue
- English
- Weight
- 73 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1897-4287
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A relatively high frequency of germ-line genomic rearrangements in MLH1 and MSH2 has been reported among Lynch Syndrome (HNPCC) patients from different ethnic populations. To investigate the underlying molecular mechanisms, we characterized the DNA breakpoints of 11 germ-line deletions, six for MLH1
## Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder that predisposes to predominantly colorectal and endometrial cancers due to germline mutations in DNA mismatch repair genes, mainly __MLH1__, __MSH2__ and in families with excess endometrial cancer also
## Abstract The original article to which this Erratum refers was published in International Journal of Cancer (2004) 109(3) 370β376DOI: 10.1002/ijc.11718