乳腺癌易感基因的研究进展

随着乳腺癌发病率逐年的增加,对乳腺癌的易感基因的研究越来越受到重视,通过乳腺癌易感基因的研究。对有乳腺癌家族史的个体进行早期诊断和预防,对阐明散发性乳腺癌的发病机理,早期诊断和判断预后,药物敏感性。良恶性疾病的鉴别诊断有重要意义。人们对高外显率的乳腺癌易感基因BRCA1,BRCA2等的研究较多,但对一些低外显率的易感基因如参与激素代谢的酶类基因CYP家族成员（CYP17,CYP19,CYP1A1等）参与致癌物代谢的基因（GSTM1,NAT1,NAT2）和DNA损伤修复基因（ATM）等了解较少,本文就目前发现的乳腺癌常见易感基因研究现状作一综述。

Research on breast cancer susceptibility genes

With the increasing of the incidence rate of breast carcinoma year after y ear,the susceptibility genes of breast carcinoma was paid more and mo re attention.The study on susceptib ility genes play an important role in early diagnosis and prevention for the individuals with family history of brea st carcinoma,elucidation of pathologic mechanism of sporadic breast carcinoma,early di agnosis and adjudging prognosis,re search on drug sensitivity,differe ntial diagnosis of benign and malignant disease,etc.T here were many studies on the high-penetrance susceptibility genes(BRCA1,BRCA2).However,some low-penetrance susc eptibility gene,for example,the me mbers of hormone metabolism related enzymes genes CYP family(CYP17,CYP19,CYP1A1,etc.),the carcinogen metabolism related gene(GSTM1,NAT1,NAT2),and DNA damage repair gene(ATM)were not clearly understood.The aim of this study was to review the presen t research situation of common suscep tibility genes of breast carcinoma f ound already.