Frequency of germline PTEN mutations in differentiated thyroid cancer.

ABSTRACT:

Background

Differentiated thyroid cancer (DTC) is seen in 3%-10% of individuals carrying a germline PTEN mutation. Patients with PTEN mutations are at risk for additional neoplasms as are their affected offspring. However, the frequency of PTEN mutations among DTC cases has not been systematically analyzed. The objective of this study was to determine the frequency of PTEN mutations in an unselected group of patients with DTC and to identify whether additional clinical features might indicate the need for referral for genetic counseling and possible testing.

Methods

We collected personal medical and family history information, head circumference data, and blood from 259 consecutively identified clinic-based patients with DTC, unselected for personal or family history. Indivi

SUBMITTER: Nagy R 

PROVIDER: S-EPMC3092722 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature