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BRCA1和BRCA2已应用于临床医学。该基因突变的这一长达十年的研究成果使得预防乳腺癌成为可能。

[BRCA1 and BRCA2 have reached the clinical medicine. The 10-year old finding of the genetic mutation makes it now possible to prevent breast cancer].

作者信息

Loman Niklas

机构信息

Onkologiska kliniken, Universitetssjukhuset, SE221 85 Lund, Sweden.

出版信息

Lakartidningen. 2004 Jun 17;101(25):2172-7.

Abstract

Increased knowledge of breast cancer genetics has improved the possibilities to predict the future risk of a woman to be diagnosed with breast cancer. In certain families, presymptomatic testing of breast cancer susceptibility genes may be offered, leading to an even more accurate individual risk prediction. As a result, advice regarding follow-up and risk reducing measures may be given to the individuals with the highest risks of cancer. Preventive surgery drastically reduces the risk of having breast or ovarian cancer respectively. The value of increased controls in hereditary high risk women is insufficiently investigated. Further studies are warranted to elucidate the efficacy of chemoprevention in women at a very high risk of breast cancer, e.g. mutation carriers of BRCA1 and BRCA2.

摘要

对乳腺癌遗传学认识的增加提高了预测女性未来患乳腺癌风险的可能性。在某些家庭中,可以提供乳腺癌易感基因的症状前检测,从而实现更准确的个体风险预测。因此,可以向癌症风险最高的个体提供有关后续跟进和降低风险措施的建议。预防性手术分别大幅降低患乳腺癌或卵巢癌的风险。对遗传性高危女性加强监测的价值尚未得到充分研究。有必要进行进一步研究,以阐明化学预防对乳腺癌极高风险女性(例如BRCA1和BRCA2突变携带者)的疗效。

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