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Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients
Karolinska Inst, Karolinska Univ Hosp, Div Obstet & Gynecol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Div Obstet & Gynecol, S-14186 Stockholm, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
Karolinska Inst, Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden.;Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, S-17176 Stockholm, Sweden..
Karolinska Inst, Karolinska Univ Hosp, Div Obstet & Gynecol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden..
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2015 (English)In: Oncology Letters, ISSN 1792-1074, E-ISSN 1792-1082, Vol. 9, no 4, 1782-1786 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2015. Vol. 9, no 4, 1782-1786 p.
Keyword [en]
germline phosphatase and tensin homolog mutations, Cowden syndrome-like families, uterine cancer
National Category
Cancer and Oncology
URN: urn:nbn:se:uu:diva-303557DOI: 10.3892/ol.2015.2890ISI: 000351631900054OAI: oai:DiVA.org:uu-303557DiVA: diva2:1007212
Available from: 2016-09-30 Created: 2016-09-20 Last updated: 2016-09-30Bibliographically approved

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