Clendenning, M.Walsh, M.Gelpi, J.Thibodeau, S.Lindor, N.Potter, J.Newcomb, P.LeMarchand, L.Haile, R.Gallinger, S.Colorectal Cancer Family Registry,Hopper, J.Jenkins, M.Rosty, C.Young, J.Buchanan, D.2015-09-242015-09-242013Familial Cancer, 2013; 12(3):563-5661389-96001573-7292http://hdl.handle.net/2440/94596Current 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.en© Springer Science+Business Media Dordrecht 2013Lynch syndromePMS2Germline testingLarge deletionsPseudogenesColorectal cancerJournal article003001201110.1007/s10689-012-9597-40003254262000242-s2.0-84885949060143923Young, J. [0000-0002-1514-1522]