An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population.
An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population.
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DOI：
10.1007/s40291-013-0059-y
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发表时间：
2014-02
影响因子：
4
通讯作者：
Jagodzinski PP
中科院分区：
文献类型：
--
作者：
Mostowska A;Pawlik P;Sajdak S;Markowska J;Pawałowska M;Lianeri M;Jagodzinski PP
Wnt/β-catenin信号通路被认为是卵巢癌发生发展的一个因素。所有卵巢癌患者和对照组使用HybProbe检测BRCA1突变（5382incC, C61G, 4153delA），使用高分辨率熔化曲线分析（HRM）检测BRCA2突变（5946delT）。突变携带者被排除在关联分析之外。我们在没有BRCA1/BRCA2突变的卵巢癌患者（n = 228）和对照组（n = 282）中研究了9个单核苷酸多态性（snp），分别位于CTNNB1 (β-catenin) [rs4533622, rs2953]、APC （rs11954856, rs351771, rs459552）和AXIN2 （rs4074947, rs7224837, rs3923087, rs2240308）。对CTNNB1 rs4533622、rs2953、APC rs351771、AXIN2 rs4074947、rs3923087和rs2240308进行HRM分型，对APC rs11954856、rs459552和AXIN2 rs7224837进行PCR分型，并进行相应的限制性酶切[PCR -限制性片段长度多态性（PCR- rflp）]。在30例卵巢癌患者中发现了最常见的BRCA1/BRCA2突变。在对照组中没有发现这些突变。卵巢癌患者APC rs351771和rs11954856 snp的趋势检验p值最低（p趋势）（p趋势分别为0.006和0.007）。使用显性遗传模型，我们发现APC rs11954856 SNP与卵巢癌发展风险增加相关[优势比= 2.034 (95% CI 1.302-3.178)；p = 0.002]。我们还观察到APC rs351771 SNP在患者和对照组之间存在显著的等位基因差异（p = 0.006）。我们的研究表明，波兰卵巢癌女性APC rs11954856和rs351771 SNP频率显著增加。本文的在线版本（doi:10.1007/s40291-013-0059-y）包含补充材料，仅供授权用户使用。
The Wnt/β-catenin signaling pathway has been considered to be a factor in the development and progression of ovarian cancer. All patients with ovarian cancer and controls were tested for BRCA1 mutations (5382incC, C61G, 4153delA) with HybProbe assays and for BRCA2 mutation (5946delT) using high-resolution melting curve analysis (HRM). Mutation carriers were excluded from the association analysis. We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). Genotyping of CTNNB1 rs4533622, rs2953, APC rs351771, AXIN2 rs4074947, rs3923087, and rs2240308 was performed by HRM, while that of APC rs11954856, rs459552 and AXIN2 rs7224837 was conducted by PCR followed by the appropriate restriction enzyme digestion [PCR–restriction fragment length polymorphism (PCR-RFLP)]. The most common BRCA1/BRCA2 mutations were identified in 30 patients with ovarian cancer. These mutations were not found in controls. The lowest p values of the trend test (p trend) were observed for the APC rs351771 and rs11954856 SNPs in patients with ovarian cancer (p trend = 0.006 and p trend = 0.007, respectively). Using a dominant inheritance model, we found that the APC rs11954856 SNP is associated with an increased risk of ovarian cancer development [odds ratio = 2.034 (95 % CI 1.302–3.178); p = 0.002]. We also observed significant allelic differences for the APC rs351771 SNP between patients and controls (p = 0.006). Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP frequencies in Polish women with ovarian cancer. The online version of this article (doi:10.1007/s40291-013-0059-y) contains supplementary material, which is available to authorized users.
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影响因子：
6.4
作者：
Notaridou, Maria;Quaye, Lydia;Dafou, Dimitra;Jones, Chris;Song, Honglin;Hogdall, Estrid;Kjaer, Susanne K.;Christensen, Lise;Hogdall, Claus;Blaakaer, Jan;McGuire, Valerie;Wu, Anna H.;Van den Berg, David J.;Pike, Malcolm C.;Gentry-Maharaj, Aleksandra;Wozniak, Eva;Sher, Tanya;Jacobs, Ian J.;Tyrer, Jonathan;Schildkraut, Joellen M.;Moorman, Patricia G.;Iversen, Edwin S.;Jakubowska, Anna;Medrek, Krzysztof;Lubinski, Jan;Ness, Roberta B.;Moysich, Kirsten B.;Lurie, Galina;Wilkens, Lynne R.;Carney, Michael E.;Wang-Gohrke, Shan;Doherty, Jennifer A.;Rossing, Mary Anne;Beckmann, Matthias W.;Thiel, Falk C.;Ekici, Arif B.;Chen, Xiaoqing;Beesley, Jonathan;Gronwald, Jacek;Fasching, Peter A.;Chang-Claude, Jenny;Goodman, Marc T.;Chenevix-Trench, Georgia;Berchuck, Andrew;Pearce, C. Leigh;Whittemore, Alice S.;Menon, Usha;Pharoah, Paul D. P.;Gayther, Simon A.;Ramus, Susan J.
通讯作者：
Ramus, Susan J.
DOI：
10.1038/jid.2008.445
发表时间：
2009-07
期刊：
The Journal of investigative dermatology
影响因子：
--
作者：
Chien AJ;Conrad WH;Moon RT
通讯作者：
Moon RT
影响因子：
30.8
作者：
通讯作者：
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影响因子：
2.1
作者：
Nakamura, T;Hamada, F;Akiyama, T
通讯作者：
Akiyama, T
影响因子：
30.8
作者：
通讯作者：
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