title: PTEN sequence analysis in endometrial hyperplasia and endometrial carcinoma in Slovak women.
abstract: Phosphatase and tensin homolog (PTEN) is a protein that acts as a tumor suppressor by dephosphorylating the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. Loss of PTEN function has been implicated in the pathogenesis of a number of different tumors, particularly endometrial carcinoma (ECa). ECa is the most common neoplasia of the female genital tract. Our study evaluates an association between the morphological appearance of endometrial hyperplasia and endometrial carcinoma and the degree of PTEN alterations. A total of 45 endometrial biopsies from Slovak women were included in present study. Formalin-fixed and paraffin-embedded tissue samples with simple hyperplasia (3), complex hyperplasia (5), atypical complex hyperplasia (7), endometrioid carcinomas G1 (20) and G3 (5), and serous carcinoma (5) were evaluated for the presence of mutations in coding regions of PTEN gene, the most frequently mutated tumor suppressor gene in endometrial carcinoma. 75% of the detected mutations were clustered in exons 5 and 8. Out of the 39 mutations detected in 24 cases, 20 were frameshifts and 19 were nonsense, missense, or silent mutations. Some specimens harboured more than one mutation. The results of current study on Slovak women were compared to a previous study performed on Polish population. The two sets of results were similar.
authors.affiliation: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia ; Department of Biochemistry and Microbiology, Faculty of Food and Biochemical Technology, University of Chemistry and Technology, Prague, Technicka 5, 16628 Prague, Czech Republic.
authors.forename: H
authors.initials: H
authors.lastname: Gbelcová
authors.affiliation: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia.
authors.forename: P
authors.initials: P
authors.lastname: Bakeš
authors.affiliation: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia.
authors.forename: P
authors.initials: P
authors.lastname: Priščáková
authors.affiliation: Institute of Pathological Anatomy, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia.
authors.forename: V
authors.initials: V
authors.lastname: Šišovský
authors.affiliation: MEDIREX GROUP ACADEMY n.o., Galvaniho 17/C, 82016 Bratislava, Slovakia.
authors.forename: I
authors.initials: I
authors.lastname: Hojsíková
authors.affiliation: Clinical Pathology Presov, Ltd., Holleho 14, 08001 Presov, Slovakia.
authors.forename: Ľ
authors.initials: Ľ
authors.lastname: Straka
authors.affiliation: Department of Clinical Genetics, St. Elizabeth Cancer Institute, Heydukova 10, 812 50 Bratislava, Slovakia.
authors.forename: M
authors.initials: M
authors.lastname: Konečný
authors.affiliation: Department of Clinical Genetics, St. Elizabeth Cancer Institute, Heydukova 10, 812 50 Bratislava, Slovakia.
authors.forename: J
authors.initials: J
authors.lastname: Markus
authors.affiliation: Department of Biochemistry and Microbiology, Faculty of Food and Biochemical Technology, University of Chemistry and Technology, Prague, Technicka 5, 16628 Prague, Czech Republic.
authors.forename: C W
authors.initials: CW
authors.lastname: D'Acunto
authors.affiliation: Department of Biochemistry and Microbiology, Faculty of Food and Biochemical Technology, University of Chemistry and Technology, Prague, Technicka 5, 16628 Prague, Czech Republic.
authors.forename: T
authors.initials: T
authors.lastname: Ruml
authors.affiliation: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia.
authors.forename: D
authors.initials: D
authors.lastname: Böhmer
authors.affiliation: Institute of Pathological Anatomy, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia.
authors.forename: Ľ
authors.initials: Ľ
authors.lastname: Danihel
authors.affiliation: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia.
authors.forename: V
authors.initials: V
authors.lastname: Repiská
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004714:Endometrial Hyperplasia / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D059645:Mutation Rate; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018154:Slovakia
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human