| Individual from a family with a known PTEN mutation |
| Individual meeting clinical diagnostic criteria[1] for Cowden syndrome/PHTS |
- Bannayan-Riley-Ruvalcaba syndrome
|
| OR |
- Adult Lhermitte-Duclos disease
|
| OR |
- Autism spectrum disorder AND macrocephaly
|
| OR |
- Two or more biopsy-proven trichilemmomas
|
| OR |
- Two or more major criteria (one macrocephaly)[1]
|
| OR |
- Three major criteria without macrocephaly[1]
|
| OR |
- One major and three or more minor criteria[1]
|
| OR |
- Four or more minor criteria[1]
|
| At-risk individual: |
- With a relative who has a clinical diagnosis of Cowden syndrome, PHTS, or Bannayan-Riley-Ruvalcaba syndrome for whom testing has not been performed
|
| AND |
- Who has any one major criterion or two minor criteria[1]
|
