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乳腺癌的临床遗传学。

Clinical genetics in breast cancer.

机构信息

Department of Surgery, Duke University Medical Center, Durham, North Carolina, USA.

Duke Cancer Institute, Duke University, Durham, North Carolina, USA.

出版信息

J Surg Oncol. 2024 Jul;130(1):16-22. doi: 10.1002/jso.27630. Epub 2024 Apr 1.

DOI:10.1002/jso.27630
PMID:38557982
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11246818/
Abstract

As genetic testing becomes increasingly more accessible and more applicable with a broader range of clinical implications, it may also become more challenging for breast cancer providers to remain up-to-date. This review outlines some of the current clinical guidelines and recent literature surrounding germline genetic testing, as well as genomic testing, in the screening, prevention, diagnosis, and treatment of breast cancer, while identifying potential areas of further research.

摘要

随着基因检测在更广泛的临床应用中变得越来越容易获得和适用,乳腺癌医生要跟上最新的进展也可能变得更加具有挑战性。本文综述了当前有关胚系基因检测以及基因组检测在乳腺癌筛查、预防、诊断和治疗中的临床指南和最新文献,并确定了进一步研究的潜在领域。

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本文引用的文献

1
Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.乳腺癌患者的种系检测:ASCO-外科肿瘤学会指南。
J Clin Oncol. 2024 Feb 10;42(5):584-604. doi: 10.1200/JCO.23.02225. Epub 2024 Jan 4.
2
Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making.乳腺癌通用种系基因检测:在农村实践中的实施及其对共同决策的影响。
Ann Surg Oncol. 2024 Jan;31(1):325-334. doi: 10.1245/s10434-023-14394-3. Epub 2023 Oct 9.
3
NCCN Guidelines® Insights: Breast Cancer Screening and Diagnosis, Version 1.2023.NCCN 指南®洞察:乳腺癌筛查与诊断,第 1.2023 版。
J Natl Compr Canc Netw. 2023 Sep;21(9):900-909. doi: 10.6004/jnccn.2023.0046.
4
First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors for Identification of Targeted Therapy Opportunities.一线治疗前未治疗的晚期实体瘤的基因组分析,以确定靶向治疗机会。
JAMA Netw Open. 2023 Jul 3;6(7):e2323336. doi: 10.1001/jamanetworkopen.2023.23336.
5
Exploring Breast Surgeons' Attitudes on Universal Genetic Testing: A Qualitative Study.探索乳腺外科医生对普遍基因检测的态度:一项定性研究。
Ann Surg Oncol. 2023 Oct;30(10):6108-6116. doi: 10.1245/s10434-023-13895-5. Epub 2023 Jul 13.
6
Magnetic resonance imaging in screening women at high risk of breast cancer: A meta-analysis.磁共振成像在筛查高乳腺癌风险女性中的应用:一项荟萃分析。
Medicine (Baltimore). 2023 Mar 10;102(10):e33146. doi: 10.1097/MD.0000000000033146.
7
Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.乳腺癌多基因风险评分与肿瘤特征和生存的关联。
J Clin Oncol. 2023 Apr 1;41(10):1849-1863. doi: 10.1200/JCO.22.01978. Epub 2023 Jan 23.
8
Breast Cancer Statistics, 2022.2022 年乳腺癌统计数据。
CA Cancer J Clin. 2022 Nov;72(6):524-541. doi: 10.3322/caac.21754. Epub 2022 Oct 3.
9
Call for action: expanding global access to hereditary cancer genetic testing.行动呼吁:扩大全球遗传性癌症基因检测的可及性
Lancet Oncol. 2022 Sep;23(9):1124-1126. doi: 10.1016/S1470-2045(22)00378-3.
10
Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.肿瘤和胚系测序检测到的基因组改变的一致性:来自三级护理学术中心分子肿瘤委员会的结果。
Oncologist. 2023 Jan 18;28(1):33-39. doi: 10.1093/oncolo/oyac164.