中文摘要：

染色体 8 的 q24 乐队(8q24 ) 经常在 8q24 包括乳癌，和几 SNP (单个核苷酸多型性) 在人的癌症被放大，包括 rs13281615，与癌症风险为他们的协会被识别了。这些 SNP 在要说明的癌症发展遗体在一个 鈥済e ne 沙漠鈥?区域，和他们的功能，尽管几 SNP 看起来以一种远程的方式在 鈥渄e sert 鈥?影响基因，包括 v-myc 鸟的 myelocytomatosis 病毒的 oncogene 相当或相同的事物( MYC )和编码 plasmacytoma 变体 translocation 的非蛋白质 1 ( PVT1 )，哪个在人的癌症被含有。在当前的学习，我们在与乳癌从 121 个中国女人使用正常和癌症纸巾的乳癌为它的潜在的角色检验了 rs13281615。除了与乳癌风险证实 rs13281615 的 GG 遗传型的协会，我们发现 germline GG 遗传型显著地与雌激素受体被联系(嗯) 确实，更高的肿瘤等级和更高的增长索引。我们也发现了经常的体的变化(22/121 或 18.2%) 在乳癌的这 SNP。有趣地，变化的多数(17/22 或 77%) 包含了一个 G 鈫 'A 变化，在癌症与更高的肿瘤等级和增长索引与 GG 风险遗传型和 GG 协会的随后的损失在癌症的数字导致减少。而且， PVT1 表示在癌症被增加，并且增加与 rs13281615 的 GG 遗传型被联系。这些结果建议 SNP rs13281615 的 GG 遗传型由影响 PVT1 多半在乳癌起一个作用表示，和那在 oncogenesis 期间，鈥減r otective 鈥 ? 变化能发生。

英文摘要：

The q24 band of chromosome 8 （8q24） is frequently amplified in human cancers including breast cancer, and several SNPs （single nucleotide polymorphisms） at 8q24, including rs13281615, have been identified for their association with cancer risks. These SNPs are in a ＂gene desert＂ region, and their functions in cancer development remain to be illustrated, although several of the SNPs appear to influence the genes in the ＂desert＂ in a long-range manner, including the v-myc avian myelocytomatosis viral oncogene homolog （MYC） and the non- protein coding plasmacytoma variant translocation 1 （PVT1）, both of which have been implicated in human cancers. In the current study, we examined rs13281615 for its potential role in breast cancer using normal and cancer tissues from 121 Chinese women with breast cancer. In addition to confirming the association of the GG genotype of rs 13281615 with breast cancer risk, we found that germline GG genotype was significantly associated with estrogen receptor （ER） positivity, higher tumor grade and higher proliferation index. We also found frequent somatic mutations （22/121 or 18.2%） of this SNP in breast cancer. Interestingly, the majority of the mutations （17/22 or 77%） involved a G→ A change, resulting in a decrease in the number of cancers with the GG risk genotype and subsequent loss of GG association with higher tumor grade and proliferation index in cancers. Furthermore, PVT1 expression was increased in cancers, and the increase was associated with the GG genotype of rs13281615. These results suggest that the GG genotype of SNP rs13281615 plays a role in breast cancer likely by influencing PVT1 expression, and that during oncogenesis, ＂protective＂ mutations could occur.