| VAŠÍČKOVÁ, Petra, Eva MACHÁČKOVÁ, Miroslava LUKEŠOVÁ, Jiří DAMBORSKÝ, Ondřej HORKÝ, Hana PAVLŮ, jitka KUKLOVÁ, Veronika KOSINOVÁ, Marie NAVRÁTILOVÁ a Lenka FORETOVÁ. High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic. BMC MEDICAL GENETICS. 2007, roč. 8, č. 32, s. 1-11, 10 s. ISSN 1471-2350. |
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@article{727104,
author = {Vašíčková, Petra and Macháčková, Eva and Lukešová, Miroslava and Damborský, Jiří and Horký, Ondřej and Pavlů, Hana and Kuklová, jitka and Kosinová, Veronika and Navrátilová, Marie and Foretová, Lenka},
article_number = {32},
keywords = {High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic},
language = {eng},
issn = {1471-2350},
journal = {BMC MEDICAL GENETICS},
title = {High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic},
url = {http://www.biomedcentral.com/1471-2350/8/32},
volume = {8},
year = {2007}
}
TY - JOUR
ID - 727104
AU - Vašíčková, Petra - Macháčková, Eva - Lukešová, Miroslava - Damborský, Jiří - Horký, Ondřej - Pavlů, Hana - Kuklová, jitka - Kosinová, Veronika - Navrátilová, Marie - Foretová, Lenka
PY - 2007
TI - High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic
JF - BMC MEDICAL GENETICS
VL - 8
IS - 32
SP - 1-11
EP - 1-11
SN - 14712350
KW - High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic
UR - http://www.biomedcentral.com/1471-2350/8/32
N2 - Alterations in the highly penetrant cancer susceptibility gene BRCA1 are responsible for the majority of hereditary breast and/or ovarian cancers. However, the number of detected germline mutations has been lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA1 gene in some high-risk families could be due to the presence of intragenic rearrangements as deletions, duplications or insertions spanning whole exons. Standard PCR-based screening methods are mainly focused on detecting point mutations and small insertions/deletions, but large rearrangements might escape detection. The purpose of this study was to determine the type and frequency of large genomic rearrangements in the BRCA1 gene in hereditary breast and ovarian cancer cases in the Czech Republic. Methods
ER -
VAŠÍČKOVÁ, Petra, Eva MACHÁČKOVÁ, Miroslava LUKEŠOVÁ, Jiří DAMBORSKÝ, Ondřej HORKÝ, Hana PAVLŮ, jitka KUKLOVÁ, Veronika KOSINOVÁ, Marie NAVRÁTILOVÁ a Lenka FORETOVÁ. High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic. \textit{BMC MEDICAL GENETICS}. 2007, roč.~8, č.~32, s.~1-11, 10 s. ISSN~1471-2350.
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