caa a22 4500 606240608 CHVBK 20210128101309.0 cr unu---uuuuu 210128e20150801xx s 000 0 eng 10.1007/s00508-015-0814-7 doi (NATIONALLICENCE)springer-10.1007/s00508-015-0814-7 AGO Austria recommendations for genetic testing of patients with ovarian cancer [Elektronische Daten] [Christian Marth, Michael Hubalek, Edgar Petru, Stephan Polterauer, Alexander Reinthaller, Christian Schauer, Tonja Scholl-Firon, Christian F. Singer, Johannes Zschocke, Alain G. Zeimet] Empfehlungen der Arbeitsgemeinschaft für gynäkologische On kologie Österreich zur genetischen Testung von Patientinnen mit Ovarialkarzinom Summary: In Austria, 700 women are diagnosed every year with ovarian carcinoma. Approximately 15 % of the patients with epithelial ovarian cancer have a germline mutation in the BRCA1 or BRCA2 genes. The increased incidence of breast and/or ovarian cancer in genetically related family members has given rise to the term "hereditary breast and ovarian cancer syndrome” (HBOC). Some 25-55 % of these in-family diseases are attributed to germline mutations of BRCA1 or BRCA2, and approximately 5-10 % to other known tumor predisposition syndromes. The remaining persons may carry mutations in as yet unidentified genes. HBOC caused by BRCA1 and BRCA2 mutations is an autosomal dominant disorder with high penetrance. BRCA1 and BRCA2 encode for so-called tumor suppressor proteins. Inherited functional mutations of these genes cause loss of function of the respective allele. Loss of function of the second allele causes complete loss of the corresponding protein and facilitates the development of a malignancy. The Association of Gynecologic Oncology recommends that testing for a germline mutation in BRCA1 or BRCA2 should be offered to all patients with epithelial ovarian cancer. When mutations in BRCA1, BRCA2, or other cancer-susceptibility genes have been identified, patients with ovarian carcinoma can be treated with new, innovative therapies. This recommendation is intended as a standard guideline for genetic testing of patients with an ovarian carcinoma. The Author(s), 2015 Ovarian cancer nationallicence BRCA1 nationallicence BRCA2 nationallicence Mutation nationallicence PARP nationallicence Ovarialkarzinom nationallicence Marth Christian Clinic for Gynecology and Obstetrics, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria aut Hubalek Michael Clinic for Gynecology and Obstetrics, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria aut Petru Edgar Clinic for Gynecology and Obstetrics, Medical University of Graz, Graz, Austria aut Polterauer Stephan Clinic for Gynecology, Clinical Department of General Gynecology and Gynecological Oncology, Medical University of Vienna, Vienna, Austria aut Reinthaller Alexander Clinic for Gynecology, Clinical Department of General Gynecology and Gynecological Oncology, Medical University of Vienna, Vienna, Austria aut Schauer Christian Department of Gynecology, Krankenhaus der Barmherzigen Brüder, Graz, Austria aut Scholl-Firon Tonja Department of Gynecology and Obstetrics, Wilhelminenspital, Vienna, Austria aut Singer Christian F. Clinic for Gynecology, Clinical Department of General Gynecology and Gynecological Oncology, Medical University of Vienna, Vienna, Austria aut Zschocke Johannes Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria aut Zeimet Alain G. Clinic for Gynecology and Obstetrics, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria aut Wiener klinische Wochenschrift Springer Vienna 127/15-16(2015-08-01), 652-654 0043-5325 127:15-16<652 2015 127 508 https://doi.org/10.1007/s00508-015-0814-7 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00508-015-0814-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Marth Christian Clinic for Gynecology and Obstetrics, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria aut NATIONALLICENCE 700 1- Hubalek Michael Clinic for Gynecology and Obstetrics, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria aut NATIONALLICENCE 700 1- Petru Edgar Clinic for Gynecology and Obstetrics, Medical University of Graz, Graz, Austria aut NATIONALLICENCE 700 1- Polterauer Stephan Clinic for Gynecology, Clinical Department of General Gynecology and Gynecological Oncology, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Reinthaller Alexander Clinic for Gynecology, Clinical Department of General Gynecology and Gynecological Oncology, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Schauer Christian Department of Gynecology, Krankenhaus der Barmherzigen Brüder, Graz, Austria aut NATIONALLICENCE 700 1- Scholl-Firon Tonja Department of Gynecology and Obstetrics, Wilhelminenspital, Vienna, Austria aut NATIONALLICENCE 700 1- Singer Christian F. Clinic for Gynecology, Clinical Department of General Gynecology and Gynecological Oncology, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Zschocke Johannes Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria aut NATIONALLICENCE 700 1- Zeimet Alain G. Clinic for Gynecology and Obstetrics, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria aut NATIONALLICENCE 773 0- Wiener klinische Wochenschrift Springer Vienna 127/15-16(2015-08-01), 652-654 0043-5325 127:15-16<652 2015 127 508