NBS1基因突变与肿瘤发生的相关性研究进展  

Advance in relativity between NBS1 mutation and development of cancer

作　　者：戎留成(综述)[1] 方拥军(审校)[1] 

机构地区：[1]南京医科大学附属南京儿童医院血液肿瘤科,210008

出　　处：《国际儿科学杂志》2010年第3期273-275,共3页International Journal of Pediatrics

摘　　要：Nijmegen断裂综合征是一种极其罕见的常染色体隐性遗传病。分子流行病学显示NBS1基因是肿瘤易患基因。迄今共在肿瘤患者的NBS1基因编码区发现了9种杂合子突变，目前关注较多的是657de15、511A→G（I171V）、643C→T（R215W）。该文就Nijmegen断裂综合征的症状及细胞特点、NBS1基因定位及蛋白结构、常见的杂合突变及其与肿瘤的关系作一综述。Nijmegen breakage syndrome （NBS）is a rare autosomal recessive disorder. Epidemiological data evidence that NBS1 gene can be considered a susceptibility factor for cancer development. So far nine mutations localized in coding sequence of the NBS1 gene have been found at the heterozygous state in cancer patients,the 657del5,511A→G （I171V）, 643C→T（R215W） am the most frequently described. The review will focus on the symptoms of NBS characteristics, the recent advances of NBS1 gene producethe correlation between carriers of NBS1 gene frequent heterozygous mutations and the development of malignant tumours.

关 键 词：Nijmegen断裂综合征 657del5 R215W I171V 肿瘤易感性 

分 类 号：R730.231[医药卫生—肿瘤]