Table 1.
Prevalence of Germline RASAL1 Alterations in CS Patients Screened (n = 195)
| Cohort | Thyroid Cancer Histology | Female | Male | RASAL1 Mutations |
|---|---|---|---|---|
| PTEN mutation negative (n = 116) | FTC | 48 | 1 | c.982C>T; R328W (2) |
| FvPTC | 4 | |||
| Anaplastic | 1 | |||
| Hurthle | 7 | |||
| PTC | 38 | 16 | ||
| PTEN mutation positive (n = 39) | FTC | 2 | 2 | |
| FVPTC | 6 | 3 | ||
| Anaplastic | 1 | |||
| PTC | 19 | 4 | ||
| NOS | 2 | |||
| “Control” elderly no-cancer PTEN wild typea (n = 40) | Nil | 35 | 5 |
NOS, not otherwise specified; CC, Cleveland Clinic PTEN Risk Score.
a
Age at CS diagnosis ≥ 60 y and CC ≥ 10.