Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.
| dc.contributor.author | Ngeow, Joanne | |
| dc.contributor.author | Liu, Chang | |
| dc.contributor.author | Zhou, Ke | |
| dc.contributor.author | Frick, Kevin D | |
| dc.contributor.author | Matchar, David B | |
| dc.contributor.author | Eng, Charis | |
| dc.date.accessioned | 2021-05-05T08:40:26Z | |
| dc.date.available | 2021-05-05T08:40:26Z | |
| dc.date.issued | 2015-08 | |
| dc.date.updated | 2021-05-05T08:40:25Z | |
| dc.description.abstract | PurposeCowden 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 methodsWe calculated the cost per mutation detected and analyzed the cost-effectiveness of performing selected PTEN testing among CS-like patients using a semi-quantitative score (the PTEN Cleveland Clinic [CC] score) compared with existing diagnostic criteria. In our model, first-degree relatives of the patients with detected PTEN mutations are offered PTEN testing. All individuals with detected PTEN mutations are offered cancer surveillance.ResultsCC score at a threshold of 15 (CC15) costs from $3,720 to $4,573 to detect one PTEN mutation, which is the most inexpensive among the different strategies. At base-case, CC10 is the most cost-effective strategy for female patients who are younger than 40 years, and CC15 is the most cost-effective strategy for female patients who are between 40 and 60 years of age and male patients of all ages. In sensitivity analyses, CC15 is robustly the most cost-effective strategy for probands who are younger than 60 years.ConclusionUse of the CC score as a clinical risk calculator is a cost-effective prescreening method to identify CS-like patients for PTEN germline testing. | |
| dc.identifier | JCO.2014.60.3456 | |
| dc.identifier.issn | 0732-183X | |
| dc.identifier.issn | 1527-7755 | |
| dc.identifier.uri | ||
| dc.language | eng | |
| dc.publisher | American Society of Clinical Oncology (ASCO) | |
| dc.relation.ispartof | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | |
| dc.relation.isversionof | 10.1200/jco.2014.60.3456 | |
| dc.subject | Humans | |
| dc.subject | Neoplasms | |
| dc.subject | Hamartoma Syndrome, Multiple | |
| dc.subject | Population Surveillance | |
| dc.subject | Germ-Line Mutation | |
| dc.subject | Adult | |
| dc.subject | Aged | |
| dc.subject | Middle Aged | |
| dc.subject | Cost-Benefit Analysis | |
| dc.subject | United States | |
| dc.subject | Female | |
| dc.subject | Male | |
| dc.subject | PTEN Phosphohydrolase | |
| dc.subject | Early Detection of Cancer | |
| dc.subject | Genetic Testing | |
| dc.title | Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. | |
| dc.type | Journal article | |
| duke.contributor.orcid | Matchar, David B|0000-0003-3020-2108 | |
| pubs.begin-page | 2537 | |
| pubs.end-page | 2544 | |
| pubs.issue | 23 | |
| pubs.organisational-group | School of Medicine | |
| pubs.organisational-group | Duke Clinical Research Institute | |
| pubs.organisational-group | Duke Global Health Institute | |
| pubs.organisational-group | Pathology | |
| pubs.organisational-group | Medicine, General Internal Medicine | |
| pubs.organisational-group | Duke | |
| pubs.organisational-group | Institutes and Centers | |
| pubs.organisational-group | University Institutes and Centers | |
| pubs.organisational-group | Institutes and Provost's Academic Units | |
| pubs.organisational-group | Clinical Science Departments | |
| pubs.organisational-group | Medicine | |
| pubs.publication-status | Published | |
| pubs.volume | 33 |
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