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. © 2013 Springer Science+Business Media Dordrecht.
CITATION STYLE
Clendenning, M., Walsh, M. D., Gelpi, J. B., Thibodeau, S. N., Lindor, N., Potter, J. D., … Buchanan, D. D. (2013). Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: Have we been missing anything? Familial Cancer, 12(3), 563–566. https://doi.org/10.1007/s10689-012-9597-4
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