High Occurrence of BRCA1 Intragenic Rearrangements in
Hereditary Breast and Ovarian Cancer Syndrome in the Czech
Republic

J 2007

High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic

VAŠÍČKOVÁ, Petra, Eva MACHÁČKOVÁ, Miroslava LUKEŠOVÁ, Jiří DAMBORSKÝ, Ondřej HORKÝ et. al.

Basic information

Original name

High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic

Name in Czech

Vysoký výskyt intragenetických přeskupení BRCA1 v dědičné rakovině prsou a vaječníků v České republice.

Authors

VAŠÍČKOVÁ, Petra (203 Czech Republic), Eva MACHÁČKOVÁ (203 Czech Republic), Miroslava LUKEŠOVÁ (203 Czech Republic), Jiří DAMBORSKÝ (203 Czech Republic, guarantor), Ondřej HORKÝ (203 Czech Republic), Hana PAVLŮ (203 Czech Republic), jitka KUKLOVÁ (203 Czech Republic), Veronika KOSINOVÁ (203 Czech Republic), Marie NAVRÁTILOVÁ (203 Czech Republic) and Lenka FORETOVÁ (203 Czech Republic)

Edition

BMC MEDICAL GENETICS, 2007, 1471-2350

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30200 3.2 Clinical medicine

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.419

RIV identification code

RIV/00216224:14310/07:00022811

Organization unit

Faculty of Science

UT WoS

000247741600001

Keywords in English

High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic

Abstract

ORIG CZ

V originále

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

In Czech

xxxx

Links

LC06010, research and development project

Name: Centrum biokatalýzy a biotransformací

Investor: Ministry of Education, Youth and Sports of the CR, Center of Biocatalysis and Biotransformation

Citovat

VAŠÍČKOVÁ, Petra, Eva MACHÁČKOVÁ, Miroslava LUKEŠOVÁ, Jiří DAMBORSKÝ, Ondřej HORKÝ, Hana PAVLŮ, jitka KUKLOVÁ, Veronika KOSINOVÁ, Marie NAVRÁTILOVÁ and Lenka FORETOVÁ. High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic. BMC MEDICAL GENETICS. 2007, vol. 8, No 32, p. 1-11, 10 pp. ISSN 1471-2350.

@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 and Lenka FORETOVÁ. High Occurrence of BRCA1 Intragenic Rearrangements in Hereditary Breast and Ovarian Cancer Syndrome in the Czech Republic. \textit{BMC MEDICAL GENETICS}. 2007, vol.~8, No~32, p.~1-11, 10 pp. ISSN~1471-2350.

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