种系ATBF1突变与前列腺癌风险
Germline ATBF1 mutations and prostate cancer risk.
作者信息
Xu Junyan, Sauvageot Jurga, Ewing Charles M, Sun Jielin, Liu Wennuan, Isaacs Sarah D, Wiley Kathleen E, Diaz Lina, Zheng S Lilly, Walsh Patrick C, Isaacs William B
机构信息
Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
出版信息
Prostate. 2006 Jul 1;66(10):1082-5. doi: 10.1002/pros.20430.
BACKGROUND
ATBF1 has been recently identified as a candidate prostate tumor suppressor gene. In addition to more unique mutations, two somatic mutations (shortening of a polypyrimidine tract [Poly(T)n] and a deletion beginning at codon 3381 (3381del)) were each observed in multiple prostate cancer samples and both appear to have an impact on ATBF1 gene function and expression.
METHODS
We assayed two recurrent sequence variants in germline DNA from prostate cancer cases and controls, and examined whether carriers of these variants are at increased risk for prostate cancer.
RESULTS
We found Poly(T)n variants in both normal and matched tumor DNA samples from multiple patients, indicating a germline origin in each case. Genotyping germline DNA samples indicated that 3381del was significantly associated with prostate cancer risk among sporadic cases (P = 0.03), but not among men with hereditary disease.
CONCLUSIONS
Our study indicates that the germline 3381del allele may influence prostate cancer susceptibility.
背景
ATBF1最近被确定为一种候选前列腺肿瘤抑制基因。除了更多独特的突变外，在多个前列腺癌样本中均观察到两种体细胞突变（多嘧啶序列[Poly(T)n]缩短和始于密码子3381的缺失（3381del）），且这两种突变似乎都对ATBF1基因功能和表达有影响。
方法
我们检测了前列腺癌病例和对照者种系DNA中的两种复发性序列变异，并研究这些变异的携带者患前列腺癌的风险是否增加。
结果
我们在多名患者的正常和匹配肿瘤DNA样本中均发现了Poly(T)n变异，表明每种情况均源于种系。对种系DNA样本进行基因分型表明，3381del在散发性病例中与前列腺癌风险显著相关（P = 0.03），但在患有遗传性疾病的男性中并非如此。
结论
我们的研究表明，种系3381del等位基因可能影响前列腺癌易感性。
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