title: Epidemiology of Patients with Ovarian Cancer with and Without a BRCA1/2 Mutation.
abstract: Ovarian cancer survival rates have improved only slightly in recent decades; however, treatment of this disease is expected to undergo rapid change as strategies incorporating molecular-targeted therapies enter clinical practice. Carriers of deleterious mutations (defined as a harmful mutation) in either the BRCA1 or BRCA2 gene (BRCAm) have a significantly increased risk of developing ovarian cancer. Epidemiology data in large (>500 patients) unselected ovarian cancer populations suggest that the expected incidence rate for BRCAm in this population is 12-14 %. Patients with a BRCAm are typically diagnosed at a younger age than those without a BRCAm. Associations with BRCAm vary according to ethnicity, with women of Ashkenazi Jewish descent being 10 times more likely to have a BRCAm than the general population. In terms of survival, patients with invasive epithelial ovarian cancer who have a BRCAm may have improved overall survival compared with patients who do not carry a BRCAm. Although genetic testing for BRCAm remains relatively uncommon in ovarian cancer patients, testing is becoming cheaper and increasingly accessible; however, this approach is not without numerous social, ethical and policy issues. Current guidelines recommend BRCAm testing in specific ovarian cancer patients only; however, with the emergence of treatments that are targeted at patients with a BRCAm, genetic testing of all patients with high-grade serous ovarian cancer may lead to improved patient outcomes in this patient population. Knowledge of BRCAm status could, therefore, help to inform treatment decisions and identify relatives at increased risk of developing cancer.
authors.affiliation: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, PO Box 281, 171 77, Stockholm, Sweden. Elisabete.Weiderpass.Vainio@ki.se.|Department of Community Medicine, Faculty of Health Sciences, University of Tromsø, The Arctic University of Norway, Tromsø, Norway. Elisabete.Weiderpass.Vainio@ki.se.|Department of Research, Cancer Registry of Norway, Oslo, Norway. Elisabete.Weiderpass.Vainio@ki.se.|Genetic Epidemiology Group, Folkhälsan Research Center, Helsinki, Finland. Elisabete.Weiderpass.Vainio@ki.se.
authors.forename: Elisabete
authors.initials: E
authors.lastname: Weiderpass
authors.affiliation: AstraZeneca, Gaithersburg, MD, USA.
authors.forename: Jerzy E
authors.initials: JE
authors.lastname: Tyczynski
mesh_terms: D017668:Age of Onset; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D015994:Incidence; D008403:Mass Screening; D058990:Molecular Targeted Therapy; D009154:Mutation; D018297:Neoplasms, Cystic, Mucinous, and Serous / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000401:mortality*; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000401:mortality*
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human