Recommended Extension of Indication Criteria for Genetic Testing of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Syndrome

Authors: L. Foretová 1;  E. Macháčková 1;  M. Palacova 2;  M. Navratilova 1;  M. Svoboda 1,2;  K. Petrakova 2
Authors‘ workplace: Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno 1;  Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno 2
Published in: Klin Onkol 2016; 29(Supplementum 1): 9-13
Category: Review
doi: 10.14735/amko2016S9


Genetic testing for hereditary breast and ovarian cancer syndrome is indicated by a genetic counselor on the basis of personal and family history evaluation, with regards to consensual criteria, reflecting the current knowledge. The latest recommendation accepted by Czech Oncology Society and Society of Medical Genetics was published in the supplement 22 to the Journal of Clinical Oncology in 2009. Since the availability of PARP inhibitors for treatment of ovarian cancer in BRCA1/2 mutation carriers, an update of these guidelines is urgently needed. Another reason is a higher incidence of other malignancies in high-risk families, such as prostate or pancreatic cancer. The goal is to refine the detection of mutations in selected families, to improve preventive care and collect data necessary for targeted cancer treatment.

hereditary breast and ovarian cancer syndrome –  genetic testing –  genetic counseling

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.

25. 8. 2015

20. 10. 2015


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