Status of the BRCA1 gene and incidence of hereditary ovarian cancer

• Published in: Contemporary oncology (Poznań, Poland) Vol. 2; no. 2; pp. 72 - 78
• Main Authors: Synowiec, Agnieszka, Wcisło, Gabriel, Bodnar, Lubomir, Szarlej-Wcisło, Katarzyna, Cieślak, Agata, Sielużycka, Joanna, Szczylik, Cezary
• Format: Journal Article
• Language: English; Polish
• Published: Poznan Termedia Publishing House 01-04-2010
• Subjects: Ovarian cancer
• ISSN: 1428-2526; 1897-4309
• DOI: 10.5114/wo.2010.13915

Ovarian cancer is the leading cause of mortality in women with gynaecological cancers. Cytoreductive surgery has been considered as a mainstay in manage­ment of ovarian cancer for a long time. Further chemotherapy, based on platinum compounds and taxanes given in an adjuvant setting, allows 5-year survival to be achieved in 10-30% of ovarian cancer patients. Among these cases, it is thought that 5-10% of patients have familial or hereditary disease in which mutations within BRCA genes are the main culprits of 80-90% of ovarian cancer sufferers. The risk of ovarian cancer development in carriers of a mutated BRCA1 gene is 16-60%, which underlines the great need for a precise tool in the form of molecular tests. Now it is time for development of a direct-to-consumer (DTC) strategy that offers commercially available molecular tests with wide utility.