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个人基因组时代的乳腺癌。

Breast cancer in the personal genomics era.

机构信息

Clinical Breast Care Project, Henry M. Jackson Foundation for the Advancement of Military Medicine, Windber, PA, USA.

出版信息

Curr Genomics. 2010 May;11(3):146-61. doi: 10.2174/138920210791110951.

DOI:10.2174/138920210791110951
PMID:21037853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2878980/
Abstract

Breast cancer is a heterogeneous disease with a complex etiology that develops from different cellular lineages, progresses along multiple molecular pathways, and demonstrates wide variability in response to treatment. The "standard of care" approach to breast cancer treatment in which all patients receive similar interventions is rapidly being replaced by personalized medicine, based on molecular characteristics of individual patients. Both inherited and somatic genomic variation is providing useful information for customizing treatment regimens for breast cancer to maximize efficacy and minimize adverse side effects. In this article, we review (1) hereditary breast cancer and current use of inherited susceptibility genes in patient management; (2) the potential of newly-identified breast cancer-susceptibility variants for improving risk assessment; (3) advantages and disadvantages of direct-to-consumer testing; (4) molecular characterization of sporadic breast cancer through immunohistochemistry and gene expression profiling and opportunities for personalized prognostics; and (5) pharmacogenomic influences on the effectiveness of current breast cancer treatments. Molecular genomics has the potential to revolutionize clinical practice and improve the lives of women with breast cancer.

摘要

乳腺癌是一种具有复杂病因的异质性疾病,它由不同的细胞谱系发展而来,沿着多种分子途径进展,并对治疗反应表现出广泛的可变性。乳腺癌治疗的“标准护理”方法是所有患者接受相似的干预措施,但这种方法正在迅速被基于个体患者分子特征的个性化医学所取代。遗传和体细胞基因组变异为定制乳腺癌治疗方案提供了有用的信息,以最大限度地提高疗效并最小化不良反应。在本文中,我们回顾了(1)遗传性乳腺癌和当前在患者管理中使用遗传性易感性基因;(2)新发现的乳腺癌易感性变异在改善风险评估方面的潜力;(3)直接面向消费者的测试的优缺点;(4)通过免疫组织化学和基因表达谱对散发性乳腺癌进行分子特征分析以及个性化预后的机会;(5)对当前乳腺癌治疗效果的药物基因组学影响。分子基因组学有可能彻底改变临床实践并改善乳腺癌患者的生活。

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Direct-to-consumer personal genome testing and cancer risk prediction.直接面向消费者的个人基因组检测与癌症风险预测。
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Provider discussion of genetic counseling among high-risk Spanish-preferring Latina breast cancer survivors.高危西班牙裔偏好拉丁裔乳腺癌幸存者的提供者讨论遗传咨询。
Transl Behav Med. 2022 Oct 7;12(9):900-908. doi: 10.1093/tbm/ibac031.
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'Breast Cancer Resistance Likelihood and Personalized Treatment Through Integrated Multiomics'.通过综合多组学技术实现乳腺癌耐药可能性及个性化治疗

本文引用的文献

1
Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen.CYP2D6基因多态性与接受他莫昔芬治疗的早期乳腺癌女性患者预后之间的关联。
JAMA. 2009 Oct 7;302(13):1429-36. doi: 10.1001/jama.2009.1420.
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The dawning era of personalized medicine exposes a gap in medical education.个性化医疗的崭新时代暴露了医学教育中的一个差距。
PLoS Med. 2009 Aug;6(8):e1000138. doi: 10.1371/journal.pmed.1000138. Epub 2009 Aug 25.
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CYP2D6 and tamoxifen: DNA matters in breast cancer.细胞色素P450 2D6与他莫昔芬:DNA在乳腺癌中的重要作用
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An overview of genetic services delivery for hereditary breast cancer.遗传性乳腺癌的遗传服务提供概述。
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Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models.基于不同人工智能模型的乳腺癌变异风险评估。
Genes (Basel). 2021 Nov 9;12(11):1774. doi: 10.3390/genes12111774.
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Radiomics as a New Frontier of Imaging for Cancer Prognosis: A Narrative Review.放射组学作为癌症预后成像的新前沿:一篇叙述性综述。
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Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report.通过利用患者同伴支持来改进我们的遗传性癌症风险级联检测模型:概念报告。
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Ki-67 as a Prognostic Biomarker in Invasive Breast Cancer.Ki-67作为浸润性乳腺癌的预后生物标志物
Cancers (Basel). 2021 Sep 3;13(17):4455. doi: 10.3390/cancers13174455.
9
A New Characterization of Mental Health Disorders Using Digital Behavioral Data: Evidence from Major Depressive Disorder.利用数字行为数据对精神健康障碍的新表征:来自重度抑郁症的证据。
J Clin Med. 2021 Jul 14;10(14):3109. doi: 10.3390/jcm10143109.
10
Development and pilot testing of a training for bilingual community education professionals about hereditary breast and ovarian cancer among Latinas: ÁRBOLES Familiares.开发并试点评估针对拉丁裔遗传性乳腺癌和卵巢癌的双语社区教育专业人员培训:ÁRBOLES Familiares。
Transl Behav Med. 2022 Jan 18;12(1). doi: 10.1093/tbm/ibab093.
Nat Rev Cancer. 2009 Aug;9(8):576-86. doi: 10.1038/nrc2683.
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Cancer statistics, 2009.2009年癌症统计数据。
CA Cancer J Clin. 2009 Jul-Aug;59(4):225-49. doi: 10.3322/caac.20006. Epub 2009 May 27.
5
The MINDACT trial: the first prospective clinical validation of a genomic tool.MINDACT试验:基因组工具的首次前瞻性临床验证。
Mol Oncol. 2007 Dec;1(3):246-51. doi: 10.1016/j.molonc.2007.10.004. Epub 2007 Oct 22.
6
Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.DNA修复和损伤反应基因的遗传多态性与乳腺癌放疗后晚期正常组织并发症
Br J Cancer. 2009 May 19;100(10):1680-6. doi: 10.1038/sj.bjc.6605036. Epub 2009 Apr 14.
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Human genetic variation and its contribution to complex traits.人类遗传变异及其对复杂性状的贡献。
Nat Rev Genet. 2009 Apr;10(4):241-51. doi: 10.1038/nrg2554.
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Personalized cancer therapy gets closer.个性化癌症治疗更近一步。
Nature. 2009 Mar 12;458(7235):131-2. doi: 10.1038/458131a.
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Pharmacogenetics of tamoxifen: who should undergo CYP2D6 genetic testing?他莫昔芬的药物遗传学:谁应该接受CYP2D6基因检测?
J Natl Compr Canc Netw. 2009 Feb;7(2):203-13. doi: 10.6004/jnccn.2009.0014.
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Pharmacokinetics and pharmacogenomics in breast cancer chemotherapy.乳腺癌化疗中的药代动力学和药物基因组学
Adv Drug Deliv Rev. 2009 May 20;61(5):381-7. doi: 10.1016/j.addr.2008.10.003. Epub 2008 Dec 3.