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Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy?

作者信息

Evans D Gareth, Howell Sacha J, Howell Anthony

机构信息

NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

出版信息

Fam Cancer. 2019 Oct;18(4):377-379. doi: 10.1007/s10689-019-00142-8.

DOI:10.1007/s10689-019-00142-8
PMID:31444676
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6784814/
Abstract
摘要

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Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy?未受影响的携带BRCA2致病变异的女性是否应该被告知降低风险的乳房切除术几乎没有或根本没有益处？
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3
Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.遗传性乳腺癌患者乳腺实质的病理特征，包括BRCA1和BRCA2突变携带者。
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Ann Oncol. 2013 Aug;24(8):2029-35. doi: 10.1093/annonc/mdt134. Epub 2013 Apr 10.
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Prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers: very low risk for subsequent breast cancer.BRCA1 和 BRCA2 基因突变携带者的预防性乳房切除术：后续乳腺癌的风险非常低。
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Long-Term Evaluation of Women Referred to a Breast Cancer Family History Clinic (Manchester UK 1987-2020).转诊至乳腺癌家族史诊所的女性的长期评估（英国曼彻斯特，1987 - 2020年）
Cancers (Basel). 2020 Dec 9;12(12):3697. doi: 10.3390/cancers12123697.
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Breast Cancer Mortality among Women with a or Mutation in a Magnetic Resonance Imaging Plus Mammography Screening Program.在磁共振成像联合乳腺钼靶筛查项目中携带某种或某些突变的女性的乳腺癌死亡率
Cancers (Basel). 2020 Nov 23;12(11):3479. doi: 10.3390/cancers12113479.

本文引用的文献

1
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.BRCA1 和 BRCA2 基因突变携带者行双侧降低风险乳房切除术的生存情况。
Breast Cancer Res Treat. 2019 Oct;177(3):723-733. doi: 10.1007/s10549-019-05345-2. Epub 2019 Jul 13.
2
International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.具有 BRCA1 或 BRCA2 突变的女性中采用癌症风险降低策略的国际趋势。
Br J Cancer. 2019 Jul;121(1):15-21. doi: 10.1038/s41416-019-0446-1. Epub 2019 Apr 11.
3
BRCA1/2 testing: therapeutic implications for breast cancer management.BRCA1/2 检测：乳腺癌管理的治疗意义。
Br J Cancer. 2018 Jul;119(2):141-152. doi: 10.1038/s41416-018-0127-5. Epub 2018 Jun 5.
4
Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality.对携带BRCA2基因突变者进行强化乳腺筛查与降低乳腺癌特异性死亡率及全因死亡率相关。
Hered Cancer Clin Pract. 2016 Apr 14;14:8. doi: 10.1186/s13053-016-0048-3. eCollection 2016.
5
Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC).MRI 筛查研究中 BRCA1 突变或家族风险女性的生存获益（MRISC）。
Int J Cancer. 2015 Oct 1;137(7):1729-38. doi: 10.1002/ijc.29534. Epub 2015 Apr 17.
6
International variation in physicians' attitudes towards prophylactic mastectomy - comparison between France, Germany, the Netherlands and the United Kingdom.医生对预防性乳房切除术的态度在国际上存在差异 - 法国、德国、荷兰和英国的比较。
Eur J Cancer. 2013 Sep;49(13):2798-805. doi: 10.1016/j.ejca.2013.04.025. Epub 2013 May 18.
7
Are we ready for online tools in decision making for BRCA1/2 mutation carriers?对于携带BRCA1/2基因突变者的决策制定而言，我们是否已准备好使用在线工具？
J Clin Oncol. 2012 Feb 10;30(5):471-3. doi: 10.1200/JCO.2011.40.1562. Epub 2012 Jan 9.
8
Online tool to guide decisions for BRCA1/2 mutation carriers.用于指导 BRCA1/2 基因突变携带者决策的在线工具。
J Clin Oncol. 2012 Feb 10;30(5):497-506. doi: 10.1200/JCO.2011.38.6060. Epub 2012 Jan 9.
9
Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers.BRCA1/2 突变携带者癌症风险降低策略的生存分析。
J Clin Oncol. 2010 Jan 10;28(2):222-31. doi: 10.1200/JCO.2009.22.7991. Epub 2009 Dec 7.
10
Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent.在乳腺癌和卵巢癌高危的未患病女性中，接受降低风险手术的情况取决于风险、年龄和时间。
Cancer Epidemiol Biomarkers Prev. 2009 Aug;18(8):2318-24. doi: 10.1158/1055-9965.EPI-09-0171.