CHEK2变种,乳腺癌,以及对管理的影响:叙述性审查
1Department of Gynecology and Obstetrics, School of Medicine, Universidade Federal de Goiás, Goiânia, GO, Brazil.
概括
遗传性乳腺癌 (BC) 风险与CHEK2致病变体 (PVs) 有关. 个性化风险评估和进一步的多样化研究对于管理CHEK2光伏载体至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 医学遗传学 医学遗传学
背景情况:
- 大约6%的乳腺癌 (BC) 病例源于遗传的遗传倾向.
- 在与增加BC风险相关的基因中,经常发现CHEK2致病变体 (PVs).
研究的目的:
- 审查CHEK2致病变体 (PVs) 与乳腺癌 (BC) 之间的关联.
- 讨论CHEK2光伏运营商的咨询和管理的影响.
主要方法:
- 使用全面的文献搜索进行了叙事审查.
- 搜索的数据库包括PubMed,Embase,谷歌学者和LILACS.
- 包括的研究包括原创文章,评论,元分析,共识陈述和英语出版的指南.
主要成果:
- 管理CHEK2 PV载体具有复杂性,需要根据家族史和突变类型 (误解与蛋白质截断) 进行个性化风险评估.
- 对于CHEK2光伏载体存在有限的大队列研究,特别是在不同的结果和祖先方面.
- 需要进一步的研究,特别是在多样化的群体中,因为目前的数据主要来自欧洲祖先队列.
结论:
- 本综述综合了关于CHEK2 PVs和BC风险的当前证据.
- 强调需要量身定制的管理策略和进一步的研究,以解决不同人群的知识差距.
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