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Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature.由于向遗传咨询和 BRCA 检测转诊率低,BRCA 突变型上皮性卵巢癌女性及其家庭错失了治疗和预防机会:文献复习。
CA Cancer J Clin. 2017 Nov;67(6):493-506. doi: 10.3322/caac.21408. Epub 2017 Sep 7.
2
Lymph node status as a prognostic factor in BRCA-positive breast cancer.淋巴结状态作为BRCA阳性乳腺癌的一个预后因素。
J Surg Res. 2017 Jul;215:125-131. doi: 10.1016/j.jss.2017.03.065. Epub 2017 Apr 7.
3
Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation.BRCA1 或 2 基因突变的德国女性中不同策略预防乳腺癌和卵巢癌的成本效益分析。
Eur J Health Econ. 2018 Apr;19(3):341-353. doi: 10.1007/s10198-017-0887-5. Epub 2017 Apr 5.
4
Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer.降低风险手术在预防遗传性乳腺癌和卵巢癌方面的成本效益。
Breast. 2017 Apr;32:186-191. doi: 10.1016/j.breast.2017.02.008. Epub 2017 Feb 17.
5
Prophylactic Bilateral Nipple-sparing Mastectomy and a Staged Breast Reconstruction Technique: Preliminary Results.预防性双侧保留乳头乳房切除术及分期乳房重建技术:初步结果
Breast Cancer (Auckl). 2016 Nov 9;10:185-189. doi: 10.4137/BCBCR.S40033. eCollection 2016.
6
Breast reconstruction after neoadjuvant radio chemotherapy: review and personal technique IDEAL concept REV-EJMR-D-15-00268.新辅助放化疗后的乳房重建:综述与个人技术——理想概念(IDEAL概念)REV-EJMR-D-15-00268
Eur J Med Res. 2016 Jun 10;21(1):24. doi: 10.1186/s40001-016-0219-8.
7
Prospective evaluation of skin and nipple-areola sensation and patient satisfaction after nipple-sparing mastectomy.保留乳头乳房切除术后皮肤及乳头乳晕感觉和患者满意度的前瞻性评估
J Surg Oncol. 2016 Jul;114(1):11-6. doi: 10.1002/jso.24264. Epub 2016 Apr 18.
8
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.21401个乳腺癌和卵巢癌家族中BRCA1/2种系突变的患病率
J Med Genet. 2016 Jul;53(7):465-71. doi: 10.1136/jmedgenet-2015-103672. Epub 2016 Feb 29.
9
The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer.降低风险手术在遗传性乳腺癌和卵巢癌中的作用
N Engl J Med. 2016 Feb 4;374(5):454-68. doi: 10.1056/NEJMra1503523.
10
Breast cancer treatment in mutation carriers: surgical treatment.突变携带者的乳腺癌治疗:手术治疗
Minerva Ginecol. 2016 Oct;68(5):548-56. Epub 2016 Jan 28.

预防性手术:针对何人、何时以及如何进行?

Prophylactic Surgery: For Whom, When and How?

作者信息

Mau Christine, Untch Michael

机构信息

Interdisziplinäres Brustzentrum, Helios-Klinikum Berlin-Buch, Berlin, Germany.

出版信息

Breast Care (Basel). 2017 Dec;12(6):379-384. doi: 10.1159/000485830. Epub 2017 Dec 13.

DOI:10.1159/000485830
PMID:29456469
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5803721/
Abstract

Risk-reducing surgery has proved to be a reasonable procedure in healthy women with a definitely elevated risk of developing cancer. Here we consider the elevated risk of breast and ovarian cancer. There is a clear indication for such surgery in healthy women with a pathogenic BRCA1/2 mutation. For these patients, a risk-reducing bilateral mastectomy leads to a verifiable reduction in mortality from breast cancer, particularly for young patients. In most cases, surgery is combined with breast reconstruction. The pros and cons of surgical treatment and the different surgical techniques have to be explained to and carefully considered with the patient. As yet, no unequivocal data for the benefits of intensifying early detection have been ascertained with respect to mortality from breast carcinoma. In index patients with a BRCA mutation, the surgical treatment should depend on the prognosis of the primary disease. A lower age at onset and a better prognosis of the primary disease make a contralateral mastectomy (CPM) more reasonable. In the case of BRCA mutation-related cancer, a reduction of mortality through CPM has been proven. A risk-reducing adnexectomy is basically recommended for BRCA mutation carriers. Healthy premenopausal women need a subsequent hormone replacement therapy. The prognosis of the patients is dominated by the ovarian carcinoma. This can be prevented by risk-reducing salpingo-oophorectomy in 95% of the cases.

摘要

对于患癌风险明显升高的健康女性,降低风险的手术已被证明是一种合理的治疗手段。在此,我们探讨乳腺癌和卵巢癌的高风险情况。对于携带致病性BRCA1/2突变的健康女性,进行此类手术有明确指征。对于这些患者,降低风险的双侧乳房切除术可切实降低乳腺癌死亡率,尤其是对年轻患者。在大多数情况下,手术会结合乳房重建。必须向患者解释手术治疗的利弊及不同手术技术,并与患者仔细商讨。目前,关于强化早期检测对乳腺癌死亡率的益处,尚未确定明确的数据。对于携带BRCA突变的索引患者,手术治疗应取决于原发疾病的预后。发病年龄较低且原发疾病预后较好,使得对侧乳房切除术(CPM)更为合理。在BRCA突变相关癌症的情况下,已证实CPM可降低死亡率。对于BRCA突变携带者,基本建议进行降低风险的附件切除术。健康的绝经前女性术后需要进行激素替代治疗。患者的预后主要取决于卵巢癌。通过降低风险的输卵管卵巢切除术,95%的病例可预防卵巢癌。