Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

Abstract excerpt

PURPOSE: PTEN hamartoma tumor syndrome is an autosomal dominant disorder with increased risks of neoplasias, macrocephaly, and developmental disabilities. While both familial and sporadic cases exist, actual de novo mutation frequency remains unknown. We sought to estimate this within our PTEN-mutation positive patient series. METHODS: Patients were prospectively accrued if they had known pathogenic germline PTEN...

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