High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F07%3A00022811" target="_blank" >RIV/00216224:14310/07:00022811 - isvavai.cz</a>
Alternative codes found
RIV/00209805:_____/07:#0000014
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic
Original language description
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 linkagedata. 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 breastand ovarian cancer cases in the Czech Republic. Methods
Czech name
Vysoký výskyt intragenetických přeskupení BRCA1 v dědičné rakovině prsou a vaječníků v České republice.
Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2007
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
BMC MEDICAL GENETICS
ISSN
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e-ISSN
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Volume of the periodical
8
Issue of the periodical within the volume
32
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
1-11
UT code for WoS article
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EID of the result in the Scopus database
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