AGO Austria recommendations for genetic testing of patients with ovarian cancer
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.
Christian Marth, Michael Hubalek, Edgar Petru, Stephan Polterauer, Alexander Reinthaller, Christian Schauer, Tonja Scholl-Firon, Christian F. Singer, Johannes Zschocke, Alain G. Zeimet, Wiener klinische Wochenschrift 15/16/2015