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本文引用的文献

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Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.乳腺癌风险基因 - 超过 113000 名女性的关联分析。
N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.
2
A Population-Based Study of Genes Previously Implicated in Breast Cancer.基于人群的先前与乳腺癌相关的基因研究。
N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.
3
Overcoming Endocrine Resistance in Breast Cancer.克服乳腺癌内分泌耐药。
Cancer Cell. 2020 Apr 13;37(4):496-513. doi: 10.1016/j.ccell.2020.03.009.
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Cancer statistics, 2020.癌症统计数据，2020 年。
CA Cancer J Clin. 2020 Jan;70(1):7-30. doi: 10.3322/caac.21590. Epub 2020 Jan 8.
5
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.BOADICEA：一种综合乳腺癌风险预测模型，纳入了遗传和非遗传风险因素。
Genet Med. 2019 Aug;21(8):1708-1718. doi: 10.1038/s41436-018-0406-9. Epub 2019 Jan 15.
6
ClinVar: improving access to variant interpretations and supporting evidence.ClinVar：改善变异解读和支持证据的获取。
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153.
7
Risk Reduction Strategies in Breast Cancer Prevention.乳腺癌预防中的风险降低策略。
Eur J Breast Health. 2017 Jul 1;13(3):103-112. doi: 10.5152/ejbh.2017.3583. eCollection 2017 Jul.
8
Gene-panel sequencing and the prediction of breast-cancer risk.基因panel测序与乳腺癌风险预测
N Engl J Med. 2015 Jun 4;372(23):2243-57. doi: 10.1056/NEJMsr1501341. Epub 2015 May 27.
9
Origins of breast cancer subtypes and therapeutic implications.乳腺癌亚型的起源及治疗意义。
Nat Clin Pract Oncol. 2007 Sep;4(9):516-25. doi: 10.1038/ncponc0908.
10
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.在未根据家族史进行选择的病例系列中检测到的与BRCA1或BRCA2基因突变相关的乳腺癌和卵巢癌平均风险：22项研究的综合分析
Am J Hum Genet. 2003 May;72(5):1117-30. doi: 10.1086/375033. Epub 2003 Apr 3.

为每位女性提供更可靠的乳腺癌风险评估。

More reliable breast cancer risk assessment for every woman.

机构信息

Department of Bioinformatics and Computational Biology and Department of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

出版信息

Cancer Cell. 2021 Apr 12;39(4):457-459. doi: 10.1016/j.ccell.2021.02.018. Epub 2021 Mar 18.

DOI:10.1016/j.ccell.2021.02.018
PMID:33740422
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8244816/
Abstract

Using large, unbiased cohorts, two studies in The New England Journal of Medicine assessed the associations between germline variants in putative cancer susceptibility genes and the risk of breast cancer. They consistently identified a small set of genes as being the most informative for risk prediction, helping select high-risk women in the general population, and developing effective cancer prevention strategies.

摘要

利用大型、无偏倚的队列，《新英格兰医学杂志》上的两项研究评估了种系潜在癌症易感性基因变异与乳腺癌风险之间的关联。它们一致确定了一小部分基因对风险预测最具信息性，有助于在普通人群中选择高危女性，并制定有效的癌症预防策略。