Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
In: Familial cancer, Jg. 12 (2013-01-05), Heft 3
Online
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Zugriff:
Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3' end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3' end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3' deletions in PMS2 are not a frequent occurrence in such families.
| Titel: |
Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
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| Autor/in / Beteiligte Person: | Buchanan, Daniel D. ; Jenkins, Mark A. ; Clendenning, Mark ; Hopper, John L. ; LeMarchand, Loic ; Gallinger, Steve ; Newcomb, Polly A. ; Young, Joanne P. ; Potter, John D. ; Lindor, Noralane M. ; Judith Balmana Gelpi ; Rosty, Christophe ; Walsh, Michael ; Haile, Robert W. ; Thibodeau, Stephen N. |
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| Zeitschrift: | Familial cancer, Jg. 12 (2013-01-05), Heft 3 |
| Veröffentlichung: | 2013 |
| Medientyp: | unknown |
| ISSN: | 1573-7292 (print) |
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