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Article

Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients

  • Authors:
    • Gerasimos Tzortzatos
    • Christos Aravidis
    • Annika  Lindblom
    • Miriam Mints
    • Emma Tham
  • View Affiliations / Copyright

    Affiliations: Department of Women's and Children's Health, Division of Obstetrics and Gynecology, The Karolinska Institute, Karolinska University Hospital, Solna, Stockholm 171 76, Sweden, Department of Clinical Genetics, Akademiska Hospital, Uppsala University, Uppsala 751 85, Sweden, Department of Clinical Genetics, The Karolinska Institute, Karolinska University Hospital, Solna, Stockholm 171 76, Sweden
  • Pages: 1782-1786
    |
    Published online on: January 23, 2015
       https://doi.org/10.3892/ol.2015.2890
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Abstract

Cowden syndrome (CS) is an autosomal dominant disorder characterized by multiple hamartomas in the breast, thyroid and endometrium, with a prevalence of 1 per 250,000. Females with CS have a 21‑28% lifetime risk of developing uterine cancer. Germline mutations in the phosphatase and tensin homolog (PTEN) gene, a tumor suppressor gene, are responsible for 30‑80% of CS cases. PTEN is a nine‑exon gene, located on chromosome 10q23.3, which encodes the 403 amino acid PTEN protein. It negatively regulates the phosphoinositide 3‑kinase/protein kinase B/mammalian target of rapamycin pathway, affecting various cellular processes and signaling pathways. The present study examined whether PTEN mutations are present in CS‑like families with uterine cancer (UC). UC patients underwent surgery at Karolinska University Hospital, Stockholm, Sweden (2008‑2012). Pedigrees were analyzed and 54 unrelated CS‑like families were identified. CS‑like families were defined as having at least one occurrence of uterine cancer and one of breast cancer, as well as at least one additional Cowden‑associated tumor (uterine, breast, thyroid, colon or kidney cancer) in the same individual or in first‑degree relatives. Genomic DNA was amplified using polymerase chain reaction, and DNA sequencing analysis of all nine exons of the PTEN gene was conducted. No germline PTEN mutations or polymorphisms were identified. Germline PTEN mutations are rare in CS‑like families with uterine cancer, therefore, genetic screening must be restricted to patients that meet the strict National Comprehensive Cancer Network criteria. Gynecologists must be aware of the CS criteria and identify potential cases of CS in females where uterine cancer is the sentinel cancer.
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Copy and paste a formatted citation
Spandidos Publications style
Tzortzatos G, Aravidis C, Lindblom A, Mints M and Tham E: Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients. Oncol Lett 9: 1782-1786, 2015.
APA
Tzortzatos, G., Aravidis, C., Lindblom, A., Mints, M., & Tham, E. (2015). Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients. Oncology Letters, 9, 1782-1786. https://doi.org/10.3892/ol.2015.2890
MLA
Tzortzatos, G., Aravidis, C., Lindblom, A., Mints, M., Tham, E."Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients". Oncology Letters 9.4 (2015): 1782-1786.
Chicago
Tzortzatos, G., Aravidis, C., Lindblom, A., Mints, M., Tham, E."Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients". Oncology Letters 9, no. 4 (2015): 1782-1786. https://doi.org/10.3892/ol.2015.2890
Copy and paste a formatted citation
x
Spandidos Publications style
Tzortzatos G, Aravidis C, Lindblom A, Mints M and Tham E: Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients. Oncol Lett 9: 1782-1786, 2015.
APA
Tzortzatos, G., Aravidis, C., Lindblom, A., Mints, M., & Tham, E. (2015). Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients. Oncology Letters, 9, 1782-1786. https://doi.org/10.3892/ol.2015.2890
MLA
Tzortzatos, G., Aravidis, C., Lindblom, A., Mints, M., Tham, E."Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients". Oncology Letters 9.4 (2015): 1782-1786.
Chicago
Tzortzatos, G., Aravidis, C., Lindblom, A., Mints, M., Tham, E."Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients". Oncology Letters 9, no. 4 (2015): 1782-1786. https://doi.org/10.3892/ol.2015.2890
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