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. 2012 May 31;7(5):e38175. doi: 10.1371/journal.pone.0038175

Table 1. Characteristics of 356 White Colorectal Cancer Families with No Evidence of Defective Mismatch Repair, N (%).

Ascertainment Method
Population-basedN = 189 Clinic-basedN = 88 UnknownaN = 79
Mean Age of Diagnosis <50 years 24 (13%) 19 (22%) 15 (19%)
≥50 years 165 (87%) 69 (78%) 64 (81%)
Number of Affected Individuals 2 115 (61%) 26 (30%) 59 (75%)
3 51 (27%) 27 (31%) 11 (14%)
4–10 23 (12%) 35 (40%) 9 (11%)
MSIb MSS 119 (63%) 61 (69%) 29 (37%)
MSI-L 9 (5%) 6 (7%) 0
Unknownd 61 (32%) 21 (24%) 50 (63%)
IHC Expression of MMR Genesc No Loss 147 (78%) 77 (88%) 31 (39%)
Unknownd 42 (22%) 11 (13%) 48 (61%)
a

Ascertainment method not reported.

b

Microsatellite stability of the tumor; MSS indicates that the tumor was microsatellite stable; MSI-L indicates that the tumor had low microsatellite instability; Unknown indicates that the tumor stability status was not available.

c

Mismatch repair status of the tumor by immunohistochemical analysis; No loss indicates that the tumor showed complete presence of protein expression of all the MMR genes tested (MLH1, MSH2, MSH6, and PMS2); Unknown indicates that the tumor MMR-expression status was not available.

d

Unknown for both MSI and IHC on 67 families is due to not being tested but had a LOD<0.04 within 20 kb surrounding MSH2, MLH1, MSH6, PMS2, PMS1, MSH3, or MLH3.