1. Volume 128, Issue 5, Pages 1431-1436 (May 2005)
Familial Mutations in PMS2 Can Cause Autosomal Dominant Hereditary Nonpolyposis Colorectal Cancer 
Daniel L. Worthley, Michael D. Walsh, Melissa Barker, Andrew Ruszkiewicz, Graeme Bennett, Kerry Phillips, Graeme Suthers 
Gastroenterology 
Volume 128, Issue 5, Pages (May 2005)
DOI: /j.gastro
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2. Figure 1 Pedigree of the kindred.
Gastroenterology  , DOI: ( /j.gastro )
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3. Figure 2
Immunohistochemistry demonstrated the selective loss of PMS2 expression in the proband’s colonic cancer (A iv) and his mother’s endometrial cancer (B iv). The expression of the other mismatch repair genes is preserved, as demonstrated by the normal brown nuclear staining in Figures (A) i, ii, iii, and (B) i, ii, iii. There are some cells in Figures (A iv) and (B iv) that stain for PMS2; these are the nonmalignant cells that still possess one normal allele of PMS2. (A) Proband’s colorectal cancer; (i) MLH1; (ii) MSH2 (iii) MSH6; (iv) PMS2; (B) Proband’s mother’s endometrial cancer (i) MLH1; (ii) MSH2; (iii) MSH6; (iv) PMS2.
Gastroenterology  , DOI: ( /j.gastro )
Copyright © 2005 American Gastroenterological Association Terms and Conditions

4. Figure 3
Sequence trace of PMS2 exon 10 from the proband, sequenced in the reverse direction. The mutation is designated 1021delA by convention as position 1021 is the most 3′ base in the A4 repeat.
Gastroenterology  , DOI: ( /j.gastro )
Copyright © 2005 American Gastroenterological Association Terms and Conditions