对患有PALB2致病变体的个体的乳腺癌风险的元分析
Thanthirige Lakshika M Ruberu1, Danielle Braun2,3, Giovanni Parmigiani3,2
1Department of Mathematical Sciences, University of Texas at Dallas.
medRxiv : the preprint server for health sciences
|July 3, 2023
概括
在PALB2基因的致病变体显著增加乳腺癌 (BC) 的风险. 患有PALB2突变的女性在80岁时患有BC的终身风险为48.47%.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 流行病学 流行病学
背景情况:
- 多基因小组测试可以识别患有癌症易感基因病原体变异的个体,包括PALB2.
- 对这些携带者来说,关于未来癌症风险的准确咨询至关重要.
- 关于PALB2致病变体和乳腺癌 (BC) 风险的现有研究表明风险估计是异质的.
结论:
- 致病性PALB2突变使女性对乳腺癌的易感性增加.
- 这些精细的风险估计对于患有病原性PALB2变异的个体的临床管理至关重要.
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