Eeles R A
Section of Cancer Genetics, Institute of Cancer Research and Royal Marsden NHS Trust, Sutton, Surrey, UK.
Breast Cancer Res. 2000;2(4):283-90. doi: 10.1186/bcr70. Epub 2000 May 25.
The development of intervention strategies for carriers of mutations in the BRCA1 and BRCA2 genes has several considerations. The first are primary prevention and secondary prevention in unaffected carriers using medical/surgical or lifestyle strategies to prevent cancer development, or screening methods to detect cancers at an earlier stage. The options available are determined by the magnitude and age at onset, risk profile of cancer in carriers (the penetrance function of the gene) and the different cancer sites involved. The management of affected individuals who are BRCA1 and BRCA2 mutation carriers may be altered by their carrier status, because the tumour histology, efficacy of treatment and risk of subsequent cancer development is determined by the BRCA1 and BRCA2 germline status. Carriers of BRCA1 and BRCA2 mutations are relatively rare, so the strategies for management should be determined by international multicentre studies.
针对携带BRCA1和BRCA2基因突变的人群制定干预策略需要考虑多个方面。首先是针对未受影响的携带者进行一级预防和二级预防,可采用医学/手术或生活方式策略来预防癌症发生,或采用筛查方法在癌症早期阶段进行检测。可用的选项取决于发病的严重程度和年龄、携带者患癌的风险特征(基因的外显率函数)以及所涉及的不同癌症部位。携带BRCA1和BRCA2基因突变的受影响个体的治疗管理可能因其携带者状态而改变,因为肿瘤组织学、治疗效果以及后续癌症发生的风险是由BRCA1和BRCA2种系状态决定的。BRCA1和BRCA2基因突变携带者相对较少,因此管理策略应由国际多中心研究来确定。