Living affected individual (proband) where the individual +/- family history meets one of the criteria.
1. Mucocutaneous lesions comprising one of the following:
a. ≥ 6 facial papules, of which ≥ 3 are trichilemmoma,
b. Cutaneous facial papules AND oral mucosal papillomatosis,
c. Oral mucosal papillomatosis AND acral keratosis,
d. ≥6 palmoplantar keratosis,
2. Cerebellar dysplastic gangliocytoma (Adult Lhermitte-Duclos disease (LDD)),
3. ≥2 major criteria, of which one should be macrocephaly
4. ≥1 major criteria and ≥ 1 PTEN-HTS-related mucocutaneous lesion,
5. ≥1 major and ≥ 3 minor criteria, OR
6. Macrocephaly ≥99th centile, AND
a. ≥ 1 minor criteria, OR
. b ≥ 1 PTEN-HTS-related mucocutaneous lesion, OR
7. ≥ 4 minor criteria, OR
8. ≥ 1 major criteria, AND ≥ 2 first / second degree relatives each with one of the following:
a. ≥ 1 major criteria,
b. ≥ 1 PTEN-HTS-related mucocutaneous lesion,
c. ≥ 2 minor criteria (multiple cases of breast cancer are not eligible for inclusion)
Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing

PTEN-HTS-related mucocutaneous lesions comprise:
• Cutaneous facial papules, including trichilemmomas
• Oral mucosal papillomatosis
• Acral (dorsal) keratoses
• Palmoplantar keratoses
Major criteria:
• Breast cancer
• Epithelial thyroid cancer (non-medullary)
• Macrocephaly (occipital frontal circumference ≥97th percentile)
• Endometrial carcinoma
Minor criteria:
• Other thyroid lesions (e.g., adenoma, multinodular goitre)
• Intellectual disability (IQ ≤75)
• Hamartomatous intestinal polyps
• Fibrocystic disease of the breast
• Lipomas
• Fibromas
• Genitourinary tumours (especially renal cell carcinoma)
• Genitourinary malformation
• Uterine fibroids
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Living affected individual (proband) where the individual +/- family history meets one of the criteria.
1. Mucocutaneous lesions comprising one of the following:
a. ≥ 6 facial papules, of which ≥ 3 are trichilemmoma,
b. Cutaneous facial papules AND oral mucosal papillomatosis,
c. Oral mucosal papillomatosis AND acral keratosis,
d. ≥6 palmoplantar keratosis,
2. Cerebellar dysplastic gangliocytoma (Adult Lhermitte-Duclos disease (LDD)),
3. ≥2 major criteria, of which one should be macrocephaly
4. ≥1 major criteria and ≥ 1 PTEN-HTS-related mucocutaneous lesion,
5. ≥1 major and ≥ 3 minor criteria, OR
6. Macrocephaly ≥99th centile, AND
a. ≥ 1 minor criteria, OR
. b ≥ 1 PTEN-HTS-related mucocutaneous lesion, OR
7. ≥ 4 minor criteria, OR
8. ≥ 1 major criteria, AND ≥ 2 first / second degree relatives each with one of the following:
a. ≥ 1 major criteria,
b. ≥ 1 PTEN-HTS-related mucocutaneous lesion,
c. ≥ 2 minor criteria (multiple cases of breast cancer are not eligible for inclusion)
Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing

PTEN-HTS-related mucocutaneous lesions comprise:
• Cutaneous facial papules, including trichilemmomas
• Oral mucosal papillomatosis
• Acral (dorsal) keratoses
• Palmoplantar keratoses
Major criteria:
• Breast cancer
• Epithelial thyroid cancer (non-medullary)
• Macrocephaly (occipital frontal circumference ≥97th percentile)
• Endometrial carcinoma
Minor criteria:
• Other thyroid lesions (e.g., adenoma, multinodular goitre)
• Intellectual disability (IQ ≤75)
• Hamartomatous intestinal polyps
• Fibrocystic disease of the breast
• Lipomas
• Fibromas
• Genitourinary tumours (especially renal cell carcinoma)
• Genitourinary malformation
• Uterine fibroids
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present