Table 1.
Clinical Characteristics by Mutation Status
| Mutation Positive | Mutation Negative | P-value | |
|---|---|---|---|
| Probands | 113 (49%) | 117 (51%) | |
| UCSF (%) | 71 (56%) | 55 (44%) | |
| UC (%) | 42 (41%) | 62 (59%) | |
| Women (%) | 73 (64%) | 77 (65%) | 0.89 |
| Ethnicity | |||
| Caucasian (%) | 88 (46%) | 102 (54%) | 0.08 |
| African American (%) | 9 (60%) | 6 (40%) | 0.43 |
| Other (%)* | 17 (65%) | 9 (35%) | 0.09 |
| CRC (% probands affected) | 78 (69%) | 67 (57%) | 0.07 |
| Mean age CRC (range in years) | 43 (21–72) | 50 (19–76) | 0.0001 |
| EC (% probands affected) | 27 (23%) | 15 (12%) | 0.03 |
| Mean age EC (range in years) | 45 (29–60) | 51 (32–88) | 0.16 |
| Other Lynch tumor (% probands affected) | 17 (15%) | 12 (10%) | 0.32 |
| hMLH1 | 47 (42%) | ||
| hMSH2 | 51 (45%) | ||
| hMSH6 | 15 (13%) | ||
| 1st degree relatives | |||
| CRC (% FDR affected**) | 32% | 17% | 0.0001 |
| Mean age CRC (years) | 47 | 53 | 0.001 |
| EC (% FDR affected) | 13% | 4% | 0.0002 |
| Other Lynch tumor (% FDR affected) | 9% | 6% | 0.07 |
| 2nd degree relative | |||
| CRC (% SDR affected**) | 18% | 8% | 0.0001 |
| Mean age CRC (years) | 46 | 61 | 0.0001 |
| EC (% SDR affected) | 8% | 4% | 0.06 |
| Other Lynch tumor (% SDR affected) | 5% | 3% | 0.16 |
UCSF, University of California San Francisco; UC, University of Chicago; CRC, colorectal cancer; EC, endometrial cancer
*
Other includes 10 Hispanic and 16 Asian individuals
**
%FDR and %SDR is a measure of number of FDR or SDR affected family members divided by total FDR or SDR family members at risk to account for family size