title: Association of HER2 codon 655 polymorphism with ovarian cancer.
abstract: The role of the human epidermal growth factor receptor 2 (HER2) codon 655 (Ile655Val) polymorphism in ovarian cancer is not fully understood. Two studies indicated a possible association between the Val allele and elevated risk or reduced prognosis of ovarian cancer. We investigated the HER2 codon 655 (rs1136201) polymorphism in 242 Austrian women-142 ovarian cancer patients and 100 healthy controls-by polymerase chain reaction and pyrosequencing. Associations between Ile655Val polymorphism and clinicopathological variables (e.g., age, FIGO stage, grading, serous vs. non-serous histology) were evaluated. The genotype distributions in ovarian cancer patients and controls were: AA; 66.2 %, AG; 25.35 %, GG; 8.45 %, and AA; 63 %, AG; 34 %, GG; 3.7 %, respectively (OR 1.15, CI 95 % 0.67-1.96). We observed a non-significant trend toward elevated cancer risk in Val/Val genotype (OR 2.98, CI 95 % 0.82-10.87, p = 0.10). Of note, 11 out of 12 Val/Val homozygotes were postmenopausal. The link between the Val/Val homozygosity and age over 50 years at diagnosis (OR 0.15, CI 95 % 0.02-1.2) was barely significant (p = 0.056). Summarizing, our data indicated a non-significant trend toward increased ovarian cancer risk in the Val/Val homozygosity, especially in women aged above 50 years. Further large-cohort studies focusing on the role of the HER2 codon 655 Val allele are needed.
authors.affiliation: Department of Gynecology and Obstetrics, St. Josefskrankenhaus, Teaching Hospital of the University of Freiburg, Sautierstr.1, 79104, Freiburg, Germany. Rafal.Watrowski@gmx.at.|Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria. Rafal.Watrowski@gmx.at.
authors.forename: Rafał
authors.initials: R
authors.lastname: Watrowski
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria.
authors.forename: Dan Cacsire
authors.initials: DC
authors.lastname: Castillo-Tong
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria.
authors.forename: Eva
authors.initials: E
authors.lastname: Schuster
authors.affiliation: Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Fischer
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria.
authors.forename: Paul
authors.initials: P
authors.lastname: Speiser
authors.affiliation: Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria.
authors.forename: Robert
authors.initials: R
authors.lastname: Zeillinger
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001317:Austria / Q000453:epidemiology; D016022:Case-Control Studies; D002454:Cell Differentiation; D003062:Codon / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D018734:Genes, erbB-2; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D003062:Codon
keywords: Codon 655; HER2; HER2 Ile655Val; Ovarian cancer; Polymorphism