eISSN: 1897-4309
ISSN: 1428-2526
Contemporary Oncology/Współczesna Onkologia
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SCImago Journal & Country Rank
2/2010
vol. 14
 
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abstract:
Review paper

Status of the BRCA1 gene and incidence of hereditary ovarian cancer

Agnieszka Synowiec
,
Gabriel Wcisło
,
Lubomir Bodnar
,
Katarzyna Szarlej-Wcisło
,
Agata Cieślak
,
Joanna Sielużycka
,
Cezary Szczylik

Współczesna Onkologia (2010) vol. 14; 2 (72–78)
Online publish date: 2010/04/30
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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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