BabyScreen+ newborn screening

Gene: PTEN

Red List (low evidence)

Well established gene-disease association.

Rated as moderately actionable by ClinGen for paediatric patients.

A meta-analysis of patients with CS indicated a mean age of presentation of 38 years, with a range of 3 to 77 years. By the third decade, 99% of affected individuals develop the mucocutaneous lesions, as well as acral and plantar keratoses. The average age for thyroid disease is 32 years. The average age of breast cancer diagnosis is between 38 and 50 years. The median age of epithelial thyroid cancer onset is 37 years, but has been diagnosed before the age of 18 years and as early as 6 years. Elevated risk for endometrial cancer, colorectal cancer, and renal cell carcinoma starts in the late 30s and early 40s. Individuals are more likely to develop bilateral and multifocal cancer in paired organs.

Patients should undergo annual comprehensive physical examinations starting at age 18 years or 5 years before the youngest age of diagnosis of a component cancer in the family, whichever comes first.

In summary: not actionable in early childhood, therefore exclude.

Created: 16 Dec 2022, 12:49 a.m. | Last Modified: 16 Dec 2022, 12:49 a.m.

Panel Version: 0.1494

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309