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Title of Journal: Wien Klin Wochenschr

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Abbravation: Wiener klinische Wochenschrift

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Springer Vienna

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DOI

10.1007/bf00016281

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1613-7671

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AGO Austria recommendations for genetic testing of

Authors: Christian Marth Michael Hubalek Edgar Petru Stephan Polterauer Alexander Reinthaller Christian Schauer Tonja SchollFiron Christian F Singer Johannes Zschocke Alain G Zeimet
Publish Date: 2015/06/25
Volume: 127, Issue: 15-16, Pages: 652-654
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Abstract

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 infamily 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 socalled 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 malignancyThe 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 cancersusceptibility 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 carcinomaIn Österreich erkranken jedes Jahr etwa 700 Frauen an einem Ovarialkarzinom Etwa 15 der Patientinnen mit epithelialem Ovarialkarzinom sind Träger einer Keimbahnmutation im BRCA1 oder BRCA2Gen Aufgrund des häufig gemeinsamen Vorkommens von Mamma und Ovarialkarzinomen spricht man vom „hereditären Mamma und Ovarialkarzinomsyndrom“ HBOC Etwa 25–55 dieser familiären Erkrankungen werden Keimbahnmutationen des BRCA1 oder BRCA2Gens zugeschrieben etwa 5–10 anderen bekannten Tumordispositionssyndromen Die verbleibenden Erkrankungen werden durch bisher nicht bekannte Gene erklärt BRCA1 und BRCA2Mutationen werden autosomaldominant mit hoher Penetranz vererbt Physiologischerweise kodieren BRCA1 bzw BRCA2 für sogenannte Tumorsuppressorproteine Funktionelle Mutationen dieser Gene führen zum Ausfall des Allels Ein Ausfall auch des zweiten Allels führt zum Verlust der entsprechenden Proteine und erleichtert die maligne TransformationEine genetische Testung und Bestimmung einer Keimbahnmutation in BRCA1 oder BRCA2 soll allen Patientinnen mit epithelialem Ovarialkarzinom angeboten werden Durch den Nachweis von Mutationen im Bereich sogenannter Krebssuszeptibilitätsgene wie BRCA1 und BRCA2 können bei Patientinnen mit manifestem Ovarialkarzinom neue innovative Therapien eingesetzt werden Durch die vorliegende Empfehlung soll die genetische Testung von Patientinnen mit Ovarialkarzinom einheitlich definiert werdenIn its guideline issued in May 2011 the Austrian Society for Gynecology and Obstetrics took a standpoint on prevention and early diagnosis of breast and ovarian cancers in highrisk patients From this recommendation the indication for molecular genetic analysis of BRCA1 and BRCA2 was defined 1


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