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携带BRCA1和BRCA2基因突变者作为化学预防试验的潜在候选对象。

BRCA1 and BRCA2 mutation carriers as potential candidates for chemoprevention trials.

作者信息

Levy-Lahad E, Krieger M, Gottfeld O, Renbaum P, Klein G, Eisenberg S, Lahad A, Kaufman B, Catane R

机构信息

Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Hadassah Medical School, Jerusalem, Israel.

出版信息

J Cell Biochem Suppl. 2000;34:13-8.

Abstract

The identification of cancer susceptibility genes offers new avenues for selecting high-risk individuals as subjects for chemoprevention trials. Because carriers of predisposing mutations are at high risk, they are more likely to enroll and comply with chemoprevention trials, and meaningful results can be achieved with smaller numbers of participants and shorter periods of follow-up. Such studies have immediate benefits for carriers themselves, but they are also likely to result in effective chemopreventive strategies for the general population. In this review, we discuss BRCA1 and BRCA2 carriers as potential candidates for breast and ovarian cancer chemoprevention trials. The existence of a large population with a high frequency of easily identifiable BRCA1/2 mutations can provide ample opportunity for such studies. However, the possibility that tumor characteristics and hormonal profile of BRCA1/BRCA2 related cancers are not completely equivalent to cancers in the general population should be borne in mind.

摘要

癌症易感基因的鉴定为选择高危个体作为化学预防试验的对象提供了新途径。由于携带易感突变的个体处于高风险状态,他们更有可能参与并遵守化学预防试验,并且通过较少数量的参与者和较短的随访期就能取得有意义的结果。此类研究对携带者自身有直接益处,但也有可能为普通人群带来有效的化学预防策略。在本综述中,我们将讨论携带BRCA1和BRCA2基因的个体作为乳腺癌和卵巢癌化学预防试验的潜在对象。存在大量具有高频率且易于识别的BRCA1/2突变的人群,可为这类研究提供充足机会。然而,应牢记BRCA1/2相关癌症的肿瘤特征和激素谱可能与普通人群中的癌症并不完全等同。

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