Suppr超能文献

乳腺癌遗传咨询的实际问题:利弊共存。

Practical aspects of genetic counseling in breast cancer: lights and shadows.

机构信息

Institute of Oncology of Southern Switzerland, Bellinzona, Switzerland.

出版信息

Breast. 2013 Aug;22(4):375-82. doi: 10.1016/j.breast.2013.04.006. Epub 2013 May 11.

Abstract

In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10-30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention.

摘要

在未选择的人群中,不到 10%的乳腺癌与易感基因的种系突变有关。乳腺癌 1 型和 2 型(BRCA1 和 BRCA2)易感基因是最常见的相关基因,与普通人群相比,患该病的风险高出 10-30 倍。具有遗传性乳腺癌综合征提示的个人或家族史可能需要进一步评估,以评估遗传易感性的风险和基因突变的存在。乳腺癌遗传咨询应包括仔细的风险评估,以及相关的社会心理评估和支持、可能的分子检测、结果的个性化讨论。BRCA 状态的知识可以影响个体化癌症风险降低策略,例如主动监测、预防性手术和/或药物预防。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验