Advance in relativity between NBS1 mutation and development of cancer / 国际儿科学杂志

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 6S7del5,511A→C (I171V), 643C→T(R215W) are 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.