Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis.
Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis.
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DOI：
10.1002/ijc.23919
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发表时间：
2009-04-01
影响因子：
6.4
通讯作者：
Garcia-Closas, Montserrat
中科院分区：
文献类型：
--
作者：
Gaudet, Mia M.;Hunter, Kent;Pharoah, Paul;Dunning, Alison M.;Driver, Kristy;Lissowska, Jolanta;Sherman, Mark;Peplonska, Beata;Brinton, Louise A.;Chanock, Stephen;Garcia-Closas, Montserrat
SIPA 1（信号诱导增殖相关基因1）的遗传变异已被认为与人类和啮齿动物中与转移和预后不良相关的侵袭性乳腺肿瘤特征相关。为了验证这一假设，我们对位于-3092位点的三个单核苷酸多态性（SNP）进行了基因分型。（A<G，rs 931127），外显子3 −135（C>T，rs3741378）和外显子14+14（C>T，rs746429），并检查了它们与乳腺癌风险和总生存期的关系，根据在波兰（1，995例，2，296例对照）和英国（2，142例，2，257例对照）进行的两项独立病例对照研究中的肿瘤特征分层。911例波兰和1，919例英国乳腺癌病例的生命状态（n=396例死亡）可用，平均随访时间为5.5年。总体而言，我们发现SIPA 1 SNP的遗传变异与乳腺癌风险之间没有显著相关性（每个等位基因的比值比，95%置信区间（CI）：rs 931127 - 0.99，0.93-1.06; rs3741378 - 1.03，0.94-1.13;和rs74642 - 0.98，0.92-1.04）。在这两项研究中，SIPA 1多态性与总死亡率无关（每个等位基因的风险比，95% CI分别为：1.02，0.88-1.17; 0.90，0.72-1.11; 1.04，0.90-1.21）。我们的研究结果不支持SIPA 1多态性与乳腺癌风险或随后的生存率之间的关系。
Genetic variation in SIPA1, signal-induced proliferation-associated gene 1, has been proposed to be associated with aggressive breast tumor characteristics related to metastasis and worse prognosis in humans and rodents. To test this hypothesis, we genotyped three single nucleotide polymorphisms (SNP) located at −3092 (A<G, rs931127), exon 3 −135 (C>T, rs3741378), and exon 14+14 (C>T, rs746429), and examined them in relation to breast cancer risk and overall survival, stratified by tumor characteristics in two independent case-control studies conducted in Poland (1,995 cases, 2,296 controls) and in Britain (2,142 cases, 2,257 controls). Vital status (n=396 deaths) was available for 911 Polish and 1,919 British breast cancer cases with an average follow-up time of 5.5 years. Overall, we found no significant associations between genetic variants of SIPA1 SNPs and breast cancer risk (per allele odds ratios, 95% confidence intervals (CI): rs931127 - 0.99, 0.93–1.06; rs3741378 - 1.03, 0.94–1.13; and, rs74642 - 0.98, 0.92–1.04). In both studies, SIPA1 polymorphisms were not related to overall mortality (per allele hazard ratios, 95% CI: 1.02, 0.88–1.17; 0.90, 0.72–1.11; 1.04, 0.90–1.21, respectively). Our results do not support a relationship between SIPA1 polymorphisms and breast cancer risk or subsequent survival.
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