Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/922326

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Title
BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms
Author/Creator
Jakubowska, Anna;  Gronwald, Jacek;  Eils, Roland;  Lubińki, Jan;  Scott, Rodney J.;  Hamann, Ute;  Menkiszak, Janusz;  Górski, Bohdan;  Huzarski, Tomasz;  Byrski, Tomasz;  Toloczko-Grabarek, Aleksandra;  Gilbert, Michael;  Edler, Lutz;  Zapatka, Marc
Institution
The University of Newcastle. Faculty of Health, School of Biomedical Sciences and Pharmacy
Description
Polymorphisms in genes involved in DNA repair, steroid hormone biosynthesis/metabolism/signaling, folate metabolism as well as cell growth are prime candidates for possible associations with breast and ovarian cancer risk in women with an inherited predisposition. We investigated 29 polymorphisms in 20 genes encoding key proteins of the above four biological pathways for their breast and ovarian cancer risk modifying effect in Polish women harboring BRCA1 founder mutations. Of the analyzed genes, ERCC2, XRCC1, XRCC2, XRCC3 and Lig4 participate in DNA repair, TP53 in cell cycle check point control, AIB1, AR, COMT, CYP11A1, CYP17A1, CYP19A1, HSD17 and PGR in steroid hormone biosynthesis/metabolism/signaling, TYMS in folate metabolism and HER2, IL6, LRP1, TGFB and TGFBR1 affect cell growth. Using validated methods, we genotyped 319 breast cancer cases, 146 ovarian cancer cases and 290 unaffected controls, all of whom harbored one of three causative mutations in BRCA1. Our results revealed no association of any of the investigated polymorphisms with BRCA1-associated breast or ovarian cancer risk. Thus, it appears that these polymorphisms do not influence disease risk in Polish women carrying one of the three common BRCA1 founder mutations.
Relation
Breast Cancer Research and Treatment Vol. 119, Issue 1, p. 201-211
Publisher Link
http://dx.doi.org/10.1007/s10549-009-0390-5
Date
2010
Publisher
Springer
Keyword(s)
BRCA1;  breast cancer;  ovarian cancer;  polymorphism;  modifying gene
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/922326
Identifier
ISSN:0167-6806
Reviewed
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Subject
"Breast Cancer Research and Treatment"
 
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