Table 2:
Characteristics of recipients of carrier testing (first- to fourth-degree relatives) and time difference between index and carrier testing, by gene tested
| Gene | No. of recipients of carrier testing | Characteristics of recipients of carrier testing | Time difference between index and carrier testing, mo, median (range) | |
|---|---|---|---|---|
| Female, no. (%) | Age, yr, mean ± SD | |||
| PTEN | 16 | 11 (68.8) | 31.1 ± 19.6 | 8.0 (4.6–27.2) |
| Lynch syndrome genes | ||||
| MLH1 | 110 | 64 (58.2) | 41.1 ± 15.7 | 7.8 (0–91.3) |
| MSH2 | 103 | 63 (61.2) | 43.9 ± 14.7 | 11.9 (0–143) |
| MSH6 | 36 | 21 (58.3) | 46.8 ± 19.1 | 6.0 (1.1–43.5) |
| PMS2 | 6 | 4 (66.7) | 56.0 ± 8.8 | 11.6 (2.9–13.4) |
| EPCAM | 3 | 0 | 43.0 ± 23.0 | 3.2 (3.2–29.8) |
| Total | 258 | 152 (58.9) | 43.4 ± 15.9 | 8.2 (0–143.0) |
| MUTYH (biallelic index) | 6 | 5 (83.3) | 53.0 ± 11.0 | 6.1 (4.8–21.3) |
| APC | 58 | 38 (65.5) | 33.6 ± 20.3 | 12.9 (1.4–170.3) |
| STK11 | 7 | 4 (57.1) | 48.0 ± 24.0 | 8.4 (0–36.4) |
| SMAD4 | 5 | 1 (20.0) | 32.0 ± 28.0 | 24.2 (6.0–28.7) |
| CHEK2 | 4 | 4 (100.0) | 46.0 ± 17.0 | 3.7 (2.7–25.1) |
| TP53 | 28 | 18 (64.3) | 35.6 ± 17.8 | 7.6 (1.1–84.7) |
| Overall total | 382 | 233 (61.0) | 41.2 ± 17.7 | 8.3 (0–170.3) |
Note: SD = standard deviation.