Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.

ABSTRACT:

Purpose

Cowden syndrome (CS) is an autosomal dominant disorder characterized by benign and malignant tumors. One-quarter of patients who are diagnosed with CS have pathogenic germline PTEN mutations, which increase the risk of the development of breast, thyroid, uterine, renal, and other cancers. PTEN testing and regular, intensive cancer surveillance allow for early detection and treatment of these cancers for mutation-positive patients and their relatives. Individual CS-related features, however, occur commonly in the general population, making it challenging for clinicians to identify CS-like patients to offer PTEN testing.

Patients and methods

We calculated the cost per mutation detected and analyzed the cost-effectiveness of performing selected PTEN testing among CS-lik

SUBMITTER: Ngeow J 

PROVIDER: S-EPMC4525048 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature