Abstract
2/2010
vol. 14
Review paper
Status of the BRCA1 gene and incidence of hereditary ovarian cancer
Współczesna Onkologia (2010) vol. 14; 2 (72–78)
Online publish date: 2010/04/30
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.
Keywords
ovarian cancer, BRCA1, founder effect mutations, genetic tests
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