Volume 135, Issue 2, Pages 419-428.e1 (August 2008) The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations  Leigha Senter, Mark Clendenning, Kaisa Sotamaa, Heather Hampel, Jane Green, John D. Potter, Annika Lindblom, Kristina Lagerstedt, Stephen N. Thibodeau, Noralane M. Lindor, Joanne Young, Ingrid Winship, James G. Dowty, Darren M. White, John L. Hopper, Laura Baglietto, Mark A. Jenkins, Albert de la Chapelle  Gastroenterology  Volume 135, Issue 2, Pages 419-428.e1 (August 2008) DOI: 10.1053/j.gastro.2008.04.026 Copyright © 2008 AGA Institute Terms and Conditions

Figure 1 Schematic of the PMS2 genomic region along with the mutations identified in this study. Mutations in black were described previously (Clendenning et al,14 2006; Nakagawa et al,12 2004). Underlined mutations currently have an unconfirmed disease-causing status. Complete exon deletions identified by MLPA are represented by black lines above the exons, with dashed regions representing possible extensions to the deleted regions that cannot be confirmed by the MLPA kit. Numbers in parentheses indicate the number of times each mutation was observed if observed more than once. Gastroenterology 2008 135, 419-428.e1DOI: (10.1053/j.gastro.2008.04.026) Copyright © 2008 AGA Institute Terms and Conditions

Supplementary Figure 1 PMS2 immunohistochemistry in colonic tissue from a patient with a monoallelic PMS2 mutation. There is absence of PMS2 staining in the tumor tissue only (lower left). Gastroenterology 2008 135, 419-428.e1DOI: (10.1053/j.gastro.2008.04.026) Copyright © 2008 AGA Institute Terms and Conditions