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

doi:10.5114/wo.2010.13915

eISSN: 1897-4309
ISSN: 1428-2526

Contemporary Oncology/Współczesna Onkologia

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2/2010
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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)

DOI: https://doi.org/10.5114/wo.2010.13915

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:

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

ovarian cancer, BRCA1, founder effect mutations, genetic tests

Agnieszka Synowiec

,

Gabriel Wcisło

,

Lubomir Bodnar

,

Katarzyna Szarlej-Wcisło

,

Agata Cieślak

,

Joanna Sielużycka

,

Cezary Szczylik