Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations
✍ Scribed by Steffen Pistorius; Heike Görgens; Jens Plaschke; Ruth Hoehl; Stefan Krüger; Christoph Engel; Hans-Detlev Saeger; Hans K. Schackert
- Book ID
- 116334248
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 495 KB
- Volume
- 248
- Category
- Article
- ISSN
- 0304-3835
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📜 SIMILAR VOLUMES
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
## 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