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

icecream 添加于 2012-12-1 22:36 | 1046 次阅读 | 0 个评论

作者
Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, Toloczko-Grabarek A, Gilbert M, Edler L, Zapatka M, Eils R, Lubinski J, Scott RJ, Hamann U
摘要
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.
详细资料
- 关键词: Breast Neoplasms/*epidemiology/*genetics; Case-Control Studies; DNA Repair; Female; *Genes, BRCA1; Genotype; Humans; *Mutation; Ovarian Neoplasms/*epidemiology/*genetics; Poland; *Polymorphism, Genetic; Risk; Signal Transduction
- 文献种类: Journal Article
- 期刊名称: Breast Cancer Research and Treatment
- 期刊缩写: Breast Cancer Res Treat
- 期卷页: 2010年第119卷第1期 201-211页
- 地址: Pomeranian Medical University, Szczecin, Poland
- ISBN: 0167-6806
学科领域生物医药 » 预防卫生学
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