It also addresses an additional issue unique to PMS2--the PMS2CL (PMS2 C-terminal like pseudogene) pseudogene (66).
Part of the issue with the clinical validation stemmed from the fact that this region of the PMS2 gene contains the PMS2CL pseudogene, which complicates an accurate analysis.
One pseudogene in particular, PMS2CL, contains 6 of the PMS2 exons (9, 11-15, 67).
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Genes Chromosomes Cancer 2012;51: 819-31.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.