Publication details
Naše skúsenosti s analýzou génu PTEN u pacientov s podezrením na Cowdenovej syndróm
| Title in English | Our Experience with Analysis of the PTEN Gene in Patients Suspected of Having Cowden Syndrome |
|---|---|
| Authors | |
| Year of publication | 2010 |
| Type | Article in Periodical |
| Magazine / Source | Klinická onkologie |
| MU Faculty or unit | |
| Citation | |
| Field | Oncology and hematology |
| Keywords | Cowden syndrome; breast cancer; thyroid cancer; hamartomas; mucocutaneous lesions |
| Description | Cowden syndrome (CS) is a rare autosomal dominant disorder with an increased risk of breast, thyroid and uterine cancer development. The International Cowden Consortium has defi ned strict diagnostic criteria for individuals and families suspected of having CS. Patients and methods: We analyzed the genomic DNA of 16 patients by sequencing analysis and MLPA (multiplex ligation-dependent probe amplifi cation) method. Results: We found germline mutations, c.825_840del, resp. c.438delT, in 2 patients. Both patients fulfi lled strict diagnostic criteria. The other patients, except one, who did not fulfi l the criteria, did not harbour any pathogenic mutation. Patients not fulfi lling strict diagnostic criteria were included in the study according to major CS criteria but not pathogenic. Conclusion: Our results and information from relevant articles show that strict international criteria are well established and analysis of „CS-like“ patients has no signifi cant prognostic meaning. |