Table 1.

Clinical characteristics of subjects with the loss of PMS2 protein expression alone and the kindred undergoing genetic testing

Subject number	Sex	Age (years)	Colorectal cancer location (age, years)	Other cancers (age, years)	Histological Dx	Mutation	Compatibility with the Revised Bethesda Guideline†	MSI status‡
1	Male	52	T. Colon (50)		25 × 20 mm, Type 2 well to moderately differentiated adenocarcinoma pMP,n0 (0/15)	Exon 9 c.943C>T R315X	Incompatible	MSI‐H(5/5)
2	Male	64	S. Colon (61)	Stomach (58) 9 × 6 mm poorly differentiated adenocarcinoma and signet ring cell adenocarcinoma, m,n0 (0/36)	9 × 9 mm well differentiated adenocarcinoma	Not identified	Compatible: 2)	MSI‐H(5/5)
3	Male	63	A. Colon (62)		67 × 47 mm pSS, n0 (0/54)	Exon 11 c.1882C>T R628X	Compatible: 4)	MSI‐H(4/5)
4	Male	46	S. Colon (40)		50 × 55 mm moderate to poorly differentiated adenocarcinoma pSS, n0 (0/23)	PMS2 genomic del Exon 12–15	Compatible: 1)	MSI‐H(5/5)
5	Male	59	A. colon (58)		25 × 22 mm pSM2, n0 (0/21), H0	PMS2 genomic del Exon 11–15	Incompatible	MSI‐H(5/5)
6	Male	55	S. Colon (55)		20 × 13 mm well differentiated adenocarcinoma pSM2, n0 (0/26)	IVS14 c.2446‐1G>A, r.2446delG frameshift mutation	Incompatible	MSI‐H(5/5)
7	Male	63	Rectum (Rb) (63)		35 × 25 mm moderately differentiated adenocarcinoma A, n0 (0/30)	Exon 3 c.241G>T, p.Glu81Stop	Incompatible	MSI‐H(4/5)

†Compatibility with the Revised Bethesda Guidelines14 is indicated when the individual fulfills any of the items in the following: 1) Colorectal cancer diagnosed in a patient who is <50 years of age. 2) Presence of synchronous, metachronous colorectal, or other hereditary non‐polyposis colorectal cancer (HNPCC) associated tumors, §regardless of age. 3) Colorectal cancer with the MSI‐H histology¶ diagnosed in a patient who is <60 years of age. 4) Colorectal cancer diagnosed in one or more first‐degree relatives with an HNPCC‐related tumor, with one of the cancers being diagnosed under age 50 years. 5) Colorectal cancer diagnosed in two or more first‐ or second‐degree relatives with HNPCC‐related tumors, regardless of age. ‡Microsatellite instability (MSI) was examined according to the original National Cancer Institute (NCI) microsatellite panel including BAT25, BAT26, D2S123, D5S346 and D17S2507. Microsatellite instability–high (MSI‐H) in tumors refers to changes in two or more of the five NCI‐recommended panels of microsatellite markers. §HNPCC‐related tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain (usually glioblastoma as seen in Turcot syndrome) tumors, sebaceous gland adenomas and keratoacanthomas in Muir–Torre syndrome, and carcinoma of the small bowel. ¶Presence of tumor infiltrating lymphocytes, Crohn's‐like lymphocytic reaction,mucinous/signet‐ring differentiation, or medullary growth pattern. There was no consensus among the Workshop participants on whether toinclude the age criteria in guideline 3 above; participants voted to keep <60 years of age in the guidelines.