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Breast Cancer Research and Treatment
Published in: Breast Cancer Research and Treatment 1/2010

01-01-2010 | Epidemiology

BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms

Authors: Anna Jakubowska, Jacek Gronwald, Janusz Menkiszak, Bohdan Górski, Tomasz Huzarski, Tomasz Byrski, Aleksandra Tołoczko-Grabarek, Michael Gilbert, Lutz Edler, Marc Zapatka, Roland Eils, Jan Lubiński, Rodney J. Scott, Ute Hamann

Published in: Breast Cancer Research and Treatment | Issue 1/2010

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Abstract

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.
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Metadata
Title
BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms
Authors
Anna Jakubowska
Jacek Gronwald
Janusz Menkiszak
Bohdan Górski
Tomasz Huzarski
Tomasz Byrski
Aleksandra Tołoczko-Grabarek
Michael Gilbert
Lutz Edler
Marc Zapatka
Roland Eils
Jan Lubiński
Rodney J. Scott
Ute Hamann
Publication date
01-01-2010
Publisher
Springer US
Published in
Breast Cancer Research and Treatment / Issue 1/2010
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-009-0390-5

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