Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population

Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population
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DOI:
10.1038/sj.bjc.6603160
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发表时间:
2006-06-19
影响因子:
8.8
通讯作者:
Ponder, B. A. J.
Ponder, B. A. J.
中科院分区:
医学1区
文献类型:
--
作者:
Lesueur, F.;Song, H.;Ponder, B. A. J.

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乳腺癌家族性风险的很大一部分可能归因于遗传变异,每种变异都有很小的影响。pRb控制细胞周期,其内的多态性是这种低突变易感性等位基因的候选者,因为该基因与几种人类肿瘤,特别是乳腺癌有关。这项研究的目的是确定RBI基因中的常见变异是否与乳腺癌风险相关。我们采用病例对照研究设计评估了15个标记单核苷酸多态性(SNPs)(n
A substantial proportion of the familial risk of breast cancer may be attributable to genetic variants each contributing a small effect. pRb controls the cell cycle and polymorphisms within it are candidates for such low penetrance susceptibility alleles, since the gene has been implicated in several human tumours, particularly breast cancer. The purpose of this study was to determine whether common variants in the RBI gene are associated with breast cancer risk. We assessed 15 tagging single-nucleotide polymorphisms (SNPs) using a case-control study design (n