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Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.基于人群的 BRCA1、BRCA2、RAD51C、RAD51D、BRIP1、PALB2 基因突变检测在未选择的普通人群女性中的成本效益。
J Natl Cancer Inst. 2018 Jul 1;110(7):714-725. doi: 10.1093/jnci/djx265.
2
From clinical epidemiology to practice recommendations: Knowledge gaps and uncertainty in the management of anal precancers.从临床流行病学到实践建议：肛门癌前病变管理中的知识差距与不确定性
Cancer. 2017 Dec 1;123(23):4530-4534. doi: 10.1002/cncr.31033. Epub 2017 Sep 26.
3
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.在未经癌症病史选择的个体中，潜在致病性种系 TP53 变异的人群患病率高于预期。
Hum Mutat. 2017 Dec;38(12):1723-1730. doi: 10.1002/humu.23320. Epub 2017 Sep 21.
4
The prevalence of DICER1 pathogenic variation in population databases.人群数据库中DICER1致病变异的患病率。
Int J Cancer. 2017 Nov 15;141(10):2030-2036. doi: 10.1002/ijc.30907. Epub 2017 Aug 21.
5
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.50726 例全外显子组序列中的功能变体的分布和临床影响：DiscovEHR 研究。
Science. 2016 Dec 23;354(6319). doi: 10.1126/science.aaf6814.
6
Cost-effectiveness of Universal BRCA1/2 Screening: Evidence-Based Decision Making.普遍BRCA1/2基因检测的成本效益：基于证据的决策制定
JAMA Oncol. 2015 Dec;1(9):1217-8. doi: 10.1001/jamaoncol.2015.2340.
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Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.与基于家族史检测相比，对阿什肯纳兹犹太妇女进行BRCA突变群体筛查的成本效益。
J Natl Cancer Inst. 2014 Nov 30;107(1):380. doi: 10.1093/jnci/dju380. Print 2015 Jan.
8
Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation.BRCA1 或 BRCA2 基因突变女性行卵巢切除术对癌症发病率和死亡率的影响。
J Clin Oncol. 2014 May 20;32(15):1547-53. doi: 10.1200/JCO.2013.53.2820. Epub 2014 Feb 24.
9
Long-term mortality associated with oophorectomy compared with ovarian conservation in the nurses' health study.与卵巢保留相比，护士健康研究中卵巢切除术的长期死亡率。
Obstet Gynecol. 2013 Apr;121(4):709-716. doi: 10.1097/AOG.0b013e3182864350.
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From differences in means between cases and controls to risk stratification: a business plan for biomarker development.从病例与对照之间的均值差异到风险分层：生物标志物开发的商业计划。
Cancer Discov. 2013 Feb;3(2):148-57. doi: 10.1158/2159-8290.CD-12-0196. Epub 2013 Jan 8.

Population Testing for High Penetrance Genes: Are We There Yet?

作者信息

Wentzensen Nicolas, Berg Christine D

机构信息

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.

出版信息

J Natl Cancer Inst. 2018 Jul 1;110(7):687-689. doi: 10.1093/jnci/djx282.

DOI:10.1093/jnci/djx282
PMID:29401305
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6279254/
Abstract
摘要