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Sökning: onr:"swepub:oai:DiVA.org:uu-303557" > Screening for germl...

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

Tzortzatos, Gerasimos (författare)
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.
Aravidis, Christos (författare)
Uppsala universitet,Medicinsk genetik och genomik
Lindblom, Annika (författare)
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.
visa fler...
Mints, Miriam (författare)
Karolinska Inst, Karolinska Univ Hosp, Div Obstet & Gynecol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden.
Tham, Emma (författare)
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.
Lindblom, A (författare)
Karolinska Institutet
Mints, M (författare)
Karolinska Institutet
Tham, E (författare)
Karolinska Institutet
Tzortzatos, G (författare)
Aravidis, C (författare)
visa färre...
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. Medicinsk genetik och genomik (creator_code:org_t)
2015
2015
Engelska.
Ingår i: Oncology Letters. - 1792-1074 .- 1792-1082. ; 9:4, s. 1782-1786
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

germline phosphatase and tensin homolog mutations
Cowden syndrome-like families
uterine cancer

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