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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 Antoniou A, Pharoah PDP, Narod S, et al. Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies. Am J Hum Genet. 2003;72(5):1117-30.
 Apostolou P, Fostira F. Hereditary Breast Cancer: The Era of New Susceptibility Genes. BioMed Research International. 2013;747318.doi:10.1155/2013/747318. Epub 2013 Mar 21.
 Balmana J, Diez O, Rubio I, Castiglione M. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Annals of Oncology 2010;21(Suppl 5):20-22.
 Bignell G, Micklem G, Stratton MR, Ashworth A, Wooster R. The BRC repeats are conserved in mammalian BRCA2 proteins. Hum Mol Genet. 1997;6: 53–8.
 Bork P, Hofmann K, Bucher P, et al. A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. FASEB J. 1997;11: 68–76.
 Bougie O, Weberpals JI. Clinical Considerations of BRCA1- and BRCA2-Mutation Carriers: A Review. Int Journal of Surgical Oncology, Vol. 2011;Article ID 374012, 11 pages http://dx.doi.org/10.1155/2011/374012
 Cisarik F. Current legislation and recommended procedures. Acta Fac Pharm Univ Com. 2013, 60, Suppl VIII: 6–9
 Ellard S, Charlton R, Yau M, et al. Practice guidelines for Sanger Sequencing Analysis and Interpretation. Clinical Molecular Genetics Society. Ratified by the CMGS Executive Committee. 2009.
 Gadzinski D, Evans DG, Harris H, et al. Genetic testing for familial/hereditary breast cancer - comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet 2011;2:53-69.
 Giordano SH. A review of the diagnosis and management of male breast cancer. Oncologist. 2005;10:471–479.
 Gulati AP, Domchek SM. The clinical management of BRCA1 and BRCA2 mutation carriers. Curr Oncol Rep. 2008;10(1):47-53.
 Ishitobi M, Miyoshi Y, Hasegawa S, et al. Mutational analysis of BARD1 in familial breast cancer patients in Japan. Cancer Lett. 2003;200:1-7.
 Konecny M, Milly M, Zavodna K, et al. Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. Breast Cancer Res Treat. 2011;126(1):119-30.
 Larsson N, Borg Å, Hodgson S, et al. EMQN Best Practice Guidelines for Molecular Genetic Analysis in Hereditary Breast/Ovarian Cancer. EMQN workshop, 2007;24-25, October 2007.
 McPherson K, Steel CM, Dixon JM. Breast cancer-epidemiology, risk factors, and genetics. BMJ. 2000;321(7261):624–628.
 Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66–7.
 Plevova P, Novotny J, Petrakova K, Kalabova R, Schneiderova M, Foretova L. Hereditary Breast Ovarian Cancer Syndrome. Klin Onkol. 2009;22(Suppl):8-11.
 Tea MK, Kroiss R, Muhr D et al. Central European BRCA2 mutation carriers: Birth cohort status correlates with onset of breast cancer. Maturitas. 2013;77(1):68-72.
 Wooster R, Neuhausen SL, Mangion J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994;265(5181):2088-90.