DNA双链断裂修复通路与遗传性乳腺癌的关系  

Association of DNA double strand break repair pathway and hereditary breast cancer

作　　者：汪海新[1] 应明真[1] 王雅杰[1] 

机构地区：[1]第二军医大学附属长海医院肿瘤科,上海200433

出　　处：《临床肿瘤学杂志》2012年第3期267-271,共5页Chinese Clinical Oncology

基　　金：国家自然科学基金资助项目(81072175;81102010);上海市卫生局科研资助项目(2009113)

摘　　要：遗传性乳腺癌具有家族聚集、早发、双侧等特点,多为易感基因发生胚系突变所致。DNA损伤修复是哺乳动物细胞保证遗传物质稳定性的重要机制。双链断裂是最严重的DNA损伤之一,修复过程涉及同源重组和非同源末端连接通路。DNA双链断裂修复或信号传导相关基因或蛋白功能缺陷可以诱导染色体不稳定而增加乳腺癌的易感性。与DNA修复功能相关的链交联剂和PARP-1抑制剂为BRCA相关遗传性乳腺癌的治疗提供了新的途径。本文就DNA双链断裂修复通路相关基因的突变与遗传性乳腺癌发病的关系作一综述。Hereditary breast cancer,characterized by familial clustering,bilateral and early onset,is mostly generated from the germline mutation of susceptibility gene.Accurate DNA damage repair in mammalian cells is the important mechanism to ensure the stability of genetic material.A double strand break（DSB） is the most severe type of DNA damage,while the process of DSB repair involves homologous recombination and nonhomologous end joining pathway.The genes and proteins＇ dysfunctions related to DSB repairing or signaling are implicated in predisposition to breast cancer through chromosomal instability.The interstrand cross-linking agents and PARP-1 inhibitors associated with DNA repair functions provide a new way to the treatment of BRCA-related hereditary breast cancer.In this paper,the relationship between the mutation of genes involved in double strand break repair pathway and the pathogenesis of hereditary breast cancer will be reviewed.

关 键 词：遗传性乳腺癌 DNA双链断裂修复通路 单核苷酸多态性 

分 类 号：R737.9[医药卫生—肿瘤]