Guidelines for complex genetic analysis of hereditary breast ovarian cancer syndrome in slovak population

M Konecny 1 , I Mlkva 2 , J Simko 3 , L Copakova 4 , L Kadasi 5 , F Cisarik 6 , L Dolesova 7 , K Zavodna 1 ,  and J Markus 1
  • 1 St. Elizabeth Cancer Institute, Department of Clinical Genetics, Bratislava, Slovak Republic
  • 2 Faculty Hospital, Centre of Medical Genetics Bratislava, Slovak Republic
  • 3 Gendiagnostica, Alphamedical, Laboratory of Molecular Biology, Bratislava, Slovak Republic
  • 4 National Cancer Institute, Department of Oncological Genetics, Bratislava, Slovak Republic
  • 5 Comenius University in Bratislava, Faculty of Natural Sciences, Department of Molecular Biology, Bratislava, Slovak Republic
  • 6 Faculty Hospital and Clinic, Zilina, Department of Medical Genetics, Slovak Republic
  • 7 Comenius University in Bratislava, Faculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, and Faculty Hospital, Bratislava, Slovak Republic


Genetic diagnostics of hereditary breast and ovarian cancer (HBOC) has been performed in Slovakia in many different forms before the year 2000. Complex HBOC genetic analysis consists of many steps, including the initial genetic consultation, laboratory testing of genes associated with HBOC, interpretation and report of DNA analysis results, secondary explanatory genetic consultation and recommendation of clinical management for pathological mutation carriers. Many clinicians are participating on this workflow, such as clinical geneticists, laboratory diagnosticians as well as gynaecologists, oncologists or radio-diagnosticians. Currently, genetic testing is still technically and financially demanding and aimed only at selected families or patients who fulfil the defined clinical indication criteria.

Positive result of DNA analysis, that is, detection of pathological mutation in genes associated with HBOC syndrome means that the risk of breast/ovarian cancer onset in mutation carriers is amplified. This predisposition markedly affects the clinical management and treatment of patient and other members of the family, thus creating the demand to establish widely accepted specific recommendations for genetic diagnostics of HBOC. In the past, the analysis of HBOC in Slovakia followed various technical approaches and indication criteria depending on the workflow of specific laboratory. The guidelines reported below adhere to the current trends in DNA analysis and clinical healthcare, define the criteria for diagnostic laboratories, conditions for genetic testing and determine indications for selection of HBOC families and further clinical management of mutation carriers.

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