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Published in: Breast Cancer Research 2/2005

01-06-2005 | Poster Presentation

Hereditary breast cancer – a spectrum of pathogenic mutations and unknown variants of BRCA1 and BRCA2 genes in the Czech Republic: efficiency of testing and clinical follow-up

Authors: L Foretova, M Lukesova, P Vasickova, M Navratilova, H Pavlu, J Kuklova, V Urbankova, D Hanouskova, B Dvorackova, E Machackova

Published in: Breast Cancer Research | Special Issue 2/2005

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Excerpt

Germline mutations in the highly penetrant cancer susceptibility genes BRCA1 and BRCA2 cause genetic predisposition to breast and ovarian cancers. Molecular genetic testing of pathogenic mutations in these two genes is an effective method for breast cancer risk prediction. Genetic counselling and testing has been provided to high-risk women in our institute since 1997. Until now 589 probands (580 women and nine men) with breast/ovarian cancer have been tested for BRCA1/2 germline mutations. …
Literature
1.
go back to reference Machackova E, Damborsky J, Valik D, Foretova L: Novel germline BRCA1 and BRCA2 mutations in breast/ovarian cancer families from the Czech Republic. Hum Mutat. 2001, 18: 545-10.1002/humu.1232.CrossRefPubMed Machackova E, Damborsky J, Valik D, Foretova L: Novel germline BRCA1 and BRCA2 mutations in breast/ovarian cancer families from the Czech Republic. Hum Mutat. 2001, 18: 545-10.1002/humu.1232.CrossRefPubMed
2.
go back to reference Foretova L, Machackova E, Navratilova M, Pavlu H, Hruba M, Lukesova M, Valik D: BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. Hum Mutat. 2004, 23: 397-398. 10.1002/humu.9226.CrossRefPubMed Foretova L, Machackova E, Navratilova M, Pavlu H, Hruba M, Lukesova M, Valik D: BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. Hum Mutat. 2004, 23: 397-398. 10.1002/humu.9226.CrossRefPubMed
Metadata
Title
Hereditary breast cancer – a spectrum of pathogenic mutations and unknown variants of BRCA1 and BRCA2 genes in the Czech Republic: efficiency of testing and clinical follow-up
Authors
L Foretova
M Lukesova
P Vasickova
M Navratilova
H Pavlu
J Kuklova
V Urbankova
D Hanouskova
B Dvorackova
E Machackova
Publication date
01-06-2005
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue Special Issue 2/2005
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr1093

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