Table 4.
CC Adult Score Derivation
| Population Risk | Relative Risk (Referral/Community) | Relative Risk (Mutants/Community) | Weight | |
|---|---|---|---|---|
| Neurological | ||||
| Macrocephaly, presence | 2 | 10.7 | 30.1 | 6 |
| Extreme (male, OFC ≥ 63 cm) | 0.2 | 130 | 160 | 10 |
| Extreme (female, OFC ≥ 60 cm) | 0.2 | 20 | 170 | 10 |
| Lhermitte Duclos disease | 0.01 | 80 | 860 | 10 |
| Autism or developmental delay | 5 | 0.2 | 1.2 | 1 |
| Breast and Gynecological | ||||
| Invasive breast cancer | ||||
| <30 | 0.06 | 23.3 | 23.3 | 4 |
| 30–39 | 0.43 | 20.2 | 19.8 | 4 |
| 40–49a | 1.45 | 17.3 | 12.6 | 2 |
| ≥50 | 10.93 | 3 | 1.8 | 1 |
| Fibrocystic breast disease | 10 | 4.5 | 4.2 | 1 |
| Endometrial cancer | ||||
| 20–29 | 0.01 | 50 | 140 | 10 |
| 30–39 | 0.06 | 20 | 46.7 | 6 |
| 40–49 | 0.19 | 13.7 | 36.8 | 6 |
| ≥50 | 2.43 | 3.7 | 2.9 | 1 |
| Fibroids | 13 | 3.2 | 2.9 | 1 |
| Gastrointestinal | ||||
| Polyposis syndrome (five or more, any type) | 1 | 3.7 | 34.3 | 6 |
| Intestinal hamartoma or ganglioneuroma, any number | 0.01 | 10 | ||
| Glycogenic acanthosis | 0.01 | 100 | 1520 | 10 |
| Skin | ||||
| Trichilemmomas, biopsy proven | 0.01 | 60 | 570 | 10 |
| Oral papillomas | 0.46 | 17.4 | 33 | 6 |
| Penile freckling | 1 | 18.8 | 29.4 | 6 |
| Acral keratoses | 10 | 0.6 | 2.7 | 1 |
| Arteriovenous malformations | 0.25 | 3.6 | 45.6 | 6 |
| Skin lipomas | 20 | 1.3 | 2.1 | 1 |
| Endocrine | ||||
| Thyroid cancer | ||||
| <20 | 0.01 | 90 | 480 | 10 |
| 20–29a | 0.06 | 46.7 | 48.3 | 4 |
| 30–39a | 0.13 | 44.6 | 51.5b | 4 |
| 40–49a | 0.17 | 43.5 | 44.7 | 4 |
| ≥50a | 0.57 | 17.7 | 6.7 | 1 |
| Thyroid goiter, nodules, adenomas, or Hashimoto's thyroiditis (one or more features) | 5 | 7.1 | 14.4 | 4 |
| Genitourinary | ||||
| Renal cell carcinoma | 1.49 | 3.2 | 4.5 | 1 |
a
For these specific features, referral bias was clinically recognized and accounted for by a standard downward modification of weight by a risk tier; this bias may also be recognized in a high RR (study population/community, relative to the RR in patients with PTEN mutations/community). Individual features for which high referral bias was evident, but where weight was already 1, were not further adjusted downward.
b
For this borderline RR just above the threshold of 50, given the relatively consistent RRs in adjacent groups for all populations, this weight was adjusted to 4 for consistency between the adjacent age groups.