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天津地区家族性乳腺癌中CHEK2基因突变的研究 被引量：2

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摘要 有研究表明，在BRCA1／BRCA2突变检测阴性的家族性乳腺癌中，细胞周期检查点激酶2（CHEK2）基因第10外显子上的c.1100delC移码突变可能和乳腺癌遗传易感性相关。在前期研究基础上，我们在天津地区无BRCA1／BRCA2基因突变的家族性乳腺癌患者中，对CHEK2基因的第10外显子进行检测，调查c．1100delC的突变情况。
作者 王忱 史玉荣 宁连胜 牛瑞芳 郝希山
机构地区 天津医科大学附属肿瘤医院肿瘤中心实验室教育部乳腺癌防治重点实验室
出处 《中华实验外科杂志》 CAS CSCD 北大核心 2008年第3期401-401,共1页 Chinese Journal of Experimental Surgery
基金 天津医科大学科学基金资助项目（2002KY19）
关键词 家族性乳腺癌 基因突变 CHEK2 天津地区 BRCA2 BRCA1 突变检测 遗传易感性
分类号 R737.9 [医药卫生—肿瘤] R734.2 [医药卫生—肿瘤]
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共引文献9

同被引文献32

  • 1Cai Z, Chehab NH, Pavletich NP. Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase[J]. Mol Cell, 2009,35(6) :818 -829.
  • 2Le CF, Lesueur F, Damiola F, et al. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility : results from a breast cancer family registry case - control mutation - screening study[J]. Breast Cancer Res, 2011,13( 1 ) :R6.
  • 3Ruijs MW, Broeks A, Menko FH, et al. The contribution of CHEK2 to the TP53 - negative Li - Fraumeni phenotype [ J]. Hered Cancer Clin Pract, 2009,7( 1 ) :4.
  • 4Wu X, Dong X, Liu W, et al. Characterization of CHEK2 mutations in prostate cancer[ J ]. Hum Mutat, 2006,27 (8) :742 - 747.
  • 5Weischer M, Bojesen SE, Ellervik C, et al. CHEK2 * 1100delC genotyping for clinical assessment of breast cancer risk : meta - analyses of 26000 patient cases and 27,000 controls[ J]. J Clin Oncol, 2008,26 (4) :542 - 548.
  • 6Evans DG, Ahmed M, Bayliss S, et al. BRCA1, BRCA2 and CHEK2 c. 1100 delC mutations in patients with double primaries of the breasts and/or ovaries[ J]. J Med Genet, 2010,47 (8) :561 - 566.
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  • 8Bahassi eM, Penner CG, Robbins SB, et al. The breast cancer susceptibility allele CHEK2 * 1100delC promotes genomic instability in a knock - in mouse model[ J ]. Mutat Res, 2007,616 ( 1 - 2) :201 -209.
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中华实验外科杂志
2008年 第3期

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