Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

Publication Type:

Journal Article

Source:

Familial cancer, Volume 12, Issue 3, p.563-6 (2013)

Keywords:

2013, Center-Authored Paper, Epidemiology Core Facility, January 2013, Public Health Sciences Division

Abstract:

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.