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Erschienen 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

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

Erschienen in: Breast Cancer Research | Sonderheft 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. …
Literatur
1.
Zurück zum Zitat 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.
Zurück zum Zitat 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
Metadaten
Titel
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
verfasst von
L Foretova
M Lukesova
P Vasickova
M Navratilova
H Pavlu
J Kuklova
V Urbankova
D Hanouskova
B Dvorackova
E Machackova
Publikationsdatum
01.06.2005
Verlag
BioMed Central
Erschienen in
Breast Cancer Research / Ausgabe Sonderheft 2/2005
Elektronische ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr1093

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