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妇科癌症护理中的种系和体细胞肿瘤检测。

Germline and Somatic Tumor Testing in Gynecologic Cancer Care.

机构信息

University of California, Irvine, 333 The City Boulevard, Suite 1400, Orange, CA 92868, USA.

University of California, Irvine, 333 The City Boulevard, Suite 1400, Orange, CA 92868, USA.

出版信息

Obstet Gynecol Clin North Am. 2019 Mar;46(1):37-53. doi: 10.1016/j.ogc.2018.09.003.

Abstract

New technologies have advanced the science of tumor biology and genomics. Commercially available germline and somatic testing modalities have the downstream benefits of enabling prevention strategies in women with hereditary cancers and their family members in addition to identifying women who benefit most from novel targeted therapeutics. The matrix of available testing is complex and evolving. Women's health providers need to be versed in benefits and limitations of available testing. Genetic counselors play a pivotal role in interpretation of relevant mutations, and in avoiding common pitfalls, but their skill set is not sufficient to optimally integrate cancer genomics into clinical practice.

摘要

新技术推动了肿瘤生物学和基因组学的发展。商业上可用的种系和体细胞检测方式具有下游效益,除了确定最受益于新型靶向治疗的女性外,还可以为遗传性癌症女性及其家庭成员提供预防策略。可用检测的矩阵复杂且不断发展。妇女健康提供者需要精通可用检测的优势和局限性。遗传咨询师在解释相关突变和避免常见陷阱方面发挥着关键作用,但他们的技能不足以将癌症基因组学最佳地整合到临床实践中。

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本文引用的文献

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A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers.妇科和乳腺癌的全面泛癌分子研究。
Cancer Cell. 2018 Apr 9;33(4):690-705.e9. doi: 10.1016/j.ccell.2018.03.014. Epub 2018 Apr 2.
4
Current and future role of genetic screening in gynecologic malignancies.基因筛查在妇科恶性肿瘤中的当前及未来作用
Am J Obstet Gynecol. 2017 Nov;217(5):512-521. doi: 10.1016/j.ajog.2017.04.011. Epub 2017 Apr 12.
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Integrated genomic and molecular characterization of cervical cancer.宫颈癌的综合基因组和分子特征分析
Nature. 2017 Mar 16;543(7645):378-384. doi: 10.1038/nature21386. Epub 2017 Jan 23.
7
BRCA mutations and risk of uterine cancer.BRCA基因突变与子宫癌风险
Lancet Oncol. 2016 Aug;17(8):e324. doi: 10.1016/S1470-2045(16)30302-3. Epub 2016 Jul 7.
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