| KLEIBL, Zdenek, Ondrej HAVRÁNEK, Stanislav KORMUNDA, Jan NOVOTNY, Lenka FORETOVÁ, Eva MACHACKOVA, Jana SOUKUPOVA, Markéta JANATOVA, Spiros TAVANDZIS a Petr POHLREICH. The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development. Journal of cancer research and clinical oncology. Germany: Springer-Verlag, 2011, roč. 137, č. 2, s. 331-338. ISSN 0171-5216. Dostupné z: https://dx.doi.org/10.1007/s00432-010-0889-5. |
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@article{969175,
author = {Kleibl, Zdenek and Havránek, Ondrej and Kormunda, Stanislav and Novotny, Jan and Foretová, Lenka and Machackova, Eva and Soukupova, Jana and Janatova, Markéta and Tavandzis, Spiros and Pohlreich, Petr},
article_location = {Germany},
article_number = {2},
doi = {http://dx.doi.org/10.1007/s00432-010-0889-5},
keywords = {Amplified in breast cancer 1 (AIB1/SRC-3/NCoA3) gene; Polymorphism; CAA/CAG repeat; Breast cancer; BRCA1; BRCA2},
language = {eng},
issn = {0171-5216},
journal = {Journal of cancer research and clinical oncology},
title = {The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development},
volume = {137},
year = {2011}
}
TY - JOUR
ID - 969175
AU - Kleibl, Zdenek - Havránek, Ondrej - Kormunda, Stanislav - Novotny, Jan - Foretová, Lenka - Machackova, Eva - Soukupova, Jana - Janatova, Markéta - Tavandzis, Spiros - Pohlreich, Petr
PY - 2011
TI - The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development
JF - Journal of cancer research and clinical oncology
VL - 137
IS - 2
SP - 331-338
EP - 331-338
PB - Springer-Verlag
SN - 01715216
KW - Amplified in breast cancer 1 (AIB1/SRC-3/NCoA3) gene
KW - Polymorphism
KW - CAA/CAG repeat
KW - Breast cancer
KW - BRCA1
KW - BRCA2
N2 - Carriers of BRCA1/2 mutations are at high lifetime risk of breast cancer (BC); however, the BC onset broadly vary in individual patients. Recently, polyglutamine (poly-Q) repeat length polymorphism of the amplified in breast cancer 1 (AIB1) gene was analyzed as a risk factor influencing BC onset in BRCA1/2 mutation carriers with contradictory results. We genotyped AIB1 poly-Q repeat in 243 BRCA1/2 mutation carriers, 61 patients with familial BC (negatively tested for the presence of BRCA1/2 mutation), 221 patients with sporadic BC, and 176 non-cancer controls using denaturing high-performance liquid chromatography and statistically evaluated the effect of AIB1 poly-Q repeat length polymorphism on BC onset. Having used previously published statistical analyses of AIB1 poly-Q repeat length (a parts per thousand yen28 and a parts per thousand yen29 repeat cutpoints or analysis of AIB1 poly-Q repeat length as continuous variable), we did not find any association between AIB1 poly-Q repeat length and BC development in analyzed BC groups. However, the analysis of individual genotypes revealed that AIB1 genotype consisting of 28/28 glutamine repeats served as a protective factor in BRCA1 mutation carriers (HR = 0.64; 95% CI 0.41-0.99; P = 0.045) and as a risk factor in carriers of mutation in exon 11 of the BRCA2 gene (HR = 3.50; 95% CI 1.25-9.78; P = 0.017). Our results confirm that AIB1 poly-Q repeat length polymorphism does not influence the BC risk in general but suggest that the specific AIB1 genotypes should be considered in patients with BC carrying mutation in the BRCA1/2 genes.
ER -
KLEIBL, Zdenek, Ondrej HAVRÁNEK, Stanislav KORMUNDA, Jan NOVOTNY, Lenka FORETOVÁ, Eva MACHACKOVA, Jana SOUKUPOVA, Markéta JANATOVA, Spiros TAVANDZIS a Petr POHLREICH. The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development. \textit{Journal of cancer research and clinical oncology}. Germany: Springer-Verlag, 2011, roč.~137, č.~2, s.~331-338. ISSN~0171-5216. Dostupné z: https://dx.doi.org/10.1007/s00432-010-0889-5.
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