title: Rad52 gene mutations in breast/ovarian cancer families and sporadic ovarian carcinoma patients.
abstract: Rad52 encodes a protein which is required for recombinational repair of double-strand breaks. It is also associated with breast cancer predisposition genes BRCA1 and BRCA2. Mutations in the genes Rad51 or Rad52 result in severe defects in genetic recombination and the repair of double-strand DNA breaks. In order to examine if Rad52 mutations might be involved in sporadic ovarian cancer, we analyzed two stop mutations (Ser346ter and Tyr415ter) in 142 Austrian ovarian carcinoma patients and 128 healthy volunteers. In addition, we analyzed these two mutations in 105 breast/ovarian cancer families (160 members) to examine if the mutations in Rad52 are associated with the occurrence of cancer and with mutations in the BRCA1 and BRCA2 genes. Our results show that these two mutations are rare in all three groups examined. There are no statistically significant differences in the frequencies of the Rad52 mutations between the control group and sporadic ovarian cancer patients and between the control groups and familial breast/ovarian cancer patients, indicating that these two mutations of the Rad52 do not play a major role in the initiation of sporadic ovarian carcinoma and familial breast/ovarian cancer.
authors.affiliation: Division of Gynecology, Department of Obstetrics and Gynecology, University of Vienna, Vienna, Austria.
authors.forename: Dan
authors.initials: D
authors.lastname: Tong
authors.forename: Tanja
authors.initials: T
authors.lastname: Volm
authors.forename: Elke
authors.initials: E
authors.lastname: Eberhardt
authors.forename: Michael
authors.initials: M
authors.lastname: Krainer
authors.forename: Sepp
authors.initials: S
authors.lastname: Leodolter
authors.forename: Rolf
authors.initials: R
authors.lastname: Kreienberg
authors.forename: Robert
authors.initials: R
authors.lastname: Zeillinger
mesh_terms: D001317:Austria; D001943:Breast Neoplasms / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics*; D045744:Cell Line, Tumor; D004247:DNA / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010051:Ovarian Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051721:Rad52 DNA Repair and Recombination Protein; D017422:Sequence Analysis, DNA
chemical_list: D004268:DNA-Binding Proteins; C497194:RAD52 protein, human; D051721:Rad52 DNA Repair and Recombination Protein; D004247:DNA