title: Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review.
abstract: The presence of a germline BRCA1/2 mutation improves options for tailored risk-reducing strategies and treatment in both breast and ovarian cancer patients and their relatives. Currently, referral for germline BRCA1/2 mutation testing of women with epithelial ovarian cancer (EOC) varies widely, based on different criteria, such as age of onset, family history of breast and/or ovarian cancer and histological type of EOC. The overall probability of a germline BRCA1/2 mutation in women with EOC is above 10%, and a substantial part of the germline BRCA1/2 mutation carriers is missed when applying these criteria for referral. Therefore, we strongly recommend referral of all women with EOC for genetic counselling and DNA analysis.
authors.affiliation: Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Marieke.Arts-deJong@radboudumc.nl.
authors.forename: Marieke
authors.initials: M
authors.lastname: Arts-de Jong
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, the Netherlands.
authors.forename: Geertruida H
authors.initials: GH
authors.lastname: de Bock
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
authors.forename: Christi J
authors.initials: CJ
authors.lastname: van Asperen
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Obstetrics and Gynaecology, Groningen, the Netherlands.
authors.forename: Marian J E
authors.initials: MJ
authors.lastname: Mourits
authors.affiliation: Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Joanne A
authors.initials: JA
authors.lastname: de Hullu
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: C Marleen
authors.initials: CM
authors.lastname: Kets
mesh_terms: D017668:Age of Onset; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D000077216:Carcinoma, Ovarian Epithelial; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA mutation; Epithelial ovarian cancer; Genetic testing; Probability; Referral