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从乳腺外科医生的角度看BRCA突变患者的管理

Management of patients with BRCA mutation from the point of view of a breast surgeon.

作者信息

Riis M L

机构信息

Department of Oncology, Section of Breast- and Endocrine Surgery, Oslo University Hospital, Oslo, Norway.

出版信息

Ann Med Surg (Lond). 2021 Apr 16;65:102311. doi: 10.1016/j.amsu.2021.102311. eCollection 2021 May.

DOI:10.1016/j.amsu.2021.102311
PMID:33996049
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8091883/
Abstract

Germ-line mutation in BRCA (BReast CAncer gene) 1 or BRCA2 are found in 3-4% of all women with breast cancer. These patients have a significant increased risk of breast and ovarian cancer. They are often younger when diagnosed with the mutation, and the possible breast cancer they get is often aggressive with inferior outcome. There are risk reducing strategies, and the most powerful strategy is risk reducing surgery, both risk reducing bilateral mastectomy (RRM) and risk reducing bilateral salpino-oophorectomy (PBSO). This review is meant to address breast surgery in patients with germline BRCA mutation. The guidelines and techniques applied is under continuous change and it is important for the clinicians to be well informed to provide the patient with the information needed for them to make an informed decision on what risk strategy to choose.

摘要

在所有乳腺癌女性患者中,3%-4%的人存在BRCA(乳腺癌基因)1或BRCA2的生殖系突变。这些患者患乳腺癌和卵巢癌的风险显著增加。他们在被诊断出携带该突变时往往较为年轻,且患的乳腺癌通常侵袭性强,预后较差。存在降低风险的策略,其中最有效的策略是降低风险的手术,包括降低风险的双侧乳房切除术(RRM)和降低风险的双侧输卵管卵巢切除术(PBSO)。本综述旨在探讨携带生殖系BRCA突变患者的乳房手术。所应用的指南和技术不断变化,临床医生充分了解相关信息很重要,以便为患者提供所需信息,使其能够就是否选择以及选择何种降低风险策略做出明智决定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/31f0e873df32/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/5931a9feba57/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/ca2d3fd04e3c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/89db1aaa1ef0/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/31f0e873df32/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/5931a9feba57/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/ca2d3fd04e3c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/89db1aaa1ef0/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b010/8091883/31f0e873df32/gr4.jpg

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Am Surg. 2020 Oct;86(10):1345-1350. doi: 10.1177/0003134820964444. Epub 2020 Oct 25.
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The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.BRCA 相关性乳腺癌与年龄因素的关系:日本 HBOC 联盟数据库分析。
J Hum Genet. 2021 Mar;66(3):307-314. doi: 10.1038/s10038-020-00849-y. Epub 2020 Oct 12.
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Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues.
'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
Front Mol Biosci. 2022 Apr 14;9:783494. doi: 10.3389/fmolb.2022.783494. eCollection 2022.
携带BRCA基因突变者的生育能力:就生殖问题为BRCA基因突变患者提供咨询。
Horm Mol Biol Clin Investig. 2020 Oct 6;43(2):171-177. doi: 10.1515/hmbci-2020-0005.
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Postirradiation Capsular Contracture in Implant-Based Breast Reconstruction: Management and Outcome.基于植入物的乳房重建术后辐射性囊袋挛缩:处理与结果。
Plast Reconstr Surg. 2021 Jan 1;147(1):11-19. doi: 10.1097/PRS.0000000000007453.
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Hormone therapy after risk-reducing surgery in patients with BRCA1/BRCA2 mutation: evaluation of potential benefits and safety.BRCA1/BRCA2 基因突变患者降低风险手术后的激素治疗:潜在益处与安全性评估
Rev Assoc Med Bras (1992). 2020 Aug;66(8):1134-1138. doi: 10.1590/1806-9282.66.8.1134.
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Use of fertility treatments in BRCA1/2 mutation carriers and risk for ovarian and breast cancer: a systematic review.BRCA1/2 基因突变携带者中生育治疗的应用与卵巢癌和乳腺癌风险:系统评价。
Arch Gynecol Obstet. 2020 Sep;302(3):715-720. doi: 10.1007/s00404-020-05690-4. Epub 2020 Jul 27.
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