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因BRCA1和BRCA2基因发生基因改变而有患乳腺癌风险的患者的预防性乳房切除术。

Preventive mastectomy in patients at breast cancer risk due to genetic alterations in the BRCA1 and BRCA2 gene.

作者信息

Taucher Susanne, Gnant Michael, Jakesz Raimund

机构信息

Department of Surgery, Medical School, Vienna University, Waehringer Guertel 18-20, 1090 Vienna, Austria.

出版信息

Langenbecks Arch Surg. 2003 Mar;388(1):3-8. doi: 10.1007/s00423-003-0355-9. Epub 2003 Feb 21.

DOI:10.1007/s00423-003-0355-9
PMID:12690474
Abstract

BACKGROUND

The availability of genetic testing for inherited mutations in the BRCA1 and BRCA2 gene provides potentially valuable information to women at high risk of breast and ovarian cancer.

METHODS AND FOCUS

We review the literature on the value of prophylactic surgical strategies in patients with hereditary predisposition to develop breast cancer and discuss the surgical options available in high-risk cancer patients, decision analyses, and possible complications.

RESULTS

Preventive surgical interventions to reduce cancer risk in high-risk patients are often strongly recommended. A patient's life-time risk to develop breast cancer in the presence of BRCA1 and BRCA2 mutations is 50-90%. Despite the reduction in the risk of developing breast cancer, prophylactic mastectomy often leads to significant physical and psychological sequelae.

摘要

背景

BRCA1和BRCA2基因遗传性突变的基因检测可为乳腺癌和卵巢癌高危女性提供潜在的宝贵信息。

方法与重点

我们回顾了关于遗传性易患乳腺癌患者预防性手术策略价值的文献,并讨论了高危癌症患者可用的手术选择、决策分析及可能的并发症。

结果

通常强烈建议对高危患者进行预防性手术干预以降低癌症风险。存在BRCA1和BRCA2突变的患者一生中患乳腺癌的风险为50% - 90%。尽管乳腺癌发病风险降低了,但预防性乳房切除术往往会导致严重的身体和心理后遗症。

相似文献

1
Preventive mastectomy in patients at breast cancer risk due to genetic alterations in the BRCA1 and BRCA2 gene.因BRCA1和BRCA2基因发生基因改变而有患乳腺癌风险的患者的预防性乳房切除术。
Langenbecks Arch Surg. 2003 Mar;388(1):3-8. doi: 10.1007/s00423-003-0355-9. Epub 2003 Feb 21.
2
Decision analysis--effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations.决策分析——预防性乳房切除术和卵巢切除术对携带BRCA1或BRCA2基因突变女性预期寿命的影响。
N Engl J Med. 1997 May 15;336(20):1465-71. doi: 10.1056/NEJM199705153362022.
3
Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation.对来自携带BRCA1或BRCA2基因突变家族的乳腺癌或卵巢癌女性使用基因检测、预防性乳房切除术和卵巢切除术。
J Clin Oncol. 2003 May 1;21(9):1675-81. doi: 10.1200/JCO.2003.09.052.
4
Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers.在一组前瞻性队列中,对未受影响的BRCA1和BRCA2基因突变携带者进行双侧预防性卵巢切除术和双侧预防性乳房切除术。
Clin Breast Cancer. 2007 Dec;7(11):875-82. doi: 10.3816/CBC.2007.n.053.
5
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.携带BRCA1和BRCA2基因突变者预防性治疗方案的国际应用率差异
Int J Cancer. 2008 May 1;122(9):2017-22. doi: 10.1002/ijc.23340.
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Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations.与BRCA1和BRCA2基因突变相关的遗传性乳腺癌卵巢癌综合征家族中女性接受预防性卵巢切除术后的腹腔内癌转移
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Decision analysis of prophylactic mastectomy and oophorectomy in BRCA1-positive or BRCA2-positive patients.BRCA1或BRCA2基因阳性患者预防性乳房切除术和卵巢切除术的决策分析
J Clin Oncol. 1998 Mar;16(3):979-85. doi: 10.1200/JCO.1998.16.3.979.
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Oophorectomy for breast cancer prevention in women with BRCA1 or BRCA2 mutations.对携带BRCA1或BRCA2基因突变的女性进行卵巢切除术以预防乳腺癌。
Womens Health (Lond). 2009 Jan;5(1):63-8. doi: 10.2217/17455057.5.1.63.
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Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: a critical review of the literature.携带BRCA1或BRCA2基因突变女性的乳腺癌预防:文献综述
Int J Cancer. 2004 Nov 10;112(3):357-64. doi: 10.1002/ijc.20429.
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Decision analysis of prophylactic surgery or screening for BRCA1 mutation carriers: a more prominent role for oophorectomy.BRCA1 突变携带者预防性手术或筛查的决策分析:卵巢切除术的作用更为突出。
J Clin Oncol. 2002 Apr 15;20(8):2092-100. doi: 10.1200/jco.2002.08.035.

引用本文的文献

1
Survival after surgical treatment of breast cancer.乳腺癌手术治疗后的生存率。
Langenbecks Arch Surg. 2004 Apr;389(2):75-82. doi: 10.1007/s00423-004-0465-z. Epub 2004 Feb 18.

本文引用的文献

1
Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations.BRCA1或BRCA2基因突变携带者的预防性卵巢切除术。
N Engl J Med. 2002 May 23;346(21):1616-22. doi: 10.1056/NEJMoa012158. Epub 2002 May 20.
2
Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation.对携带BRCA1或BRCA2基因突变的女性进行降低风险的输卵管卵巢切除术。
N Engl J Med. 2002 May 23;346(21):1609-15. doi: 10.1056/NEJMoa020119. Epub 2002 May 20.
3
Effect of prevention strategies on survival and quality-adjusted survival of women with BRCA1/2 mutations: an updated decision analysis.
预防策略对携带BRCA1/2基因突变女性的生存及质量调整生存的影响:一项更新的决策分析
J Clin Oncol. 2002 May 15;20(10):2520-9. doi: 10.1200/JCO.2002.10.101.
4
Quality control in prophylactic mastectomy for women at high risk of breast cancer.针对乳腺癌高危女性的预防性乳房切除术的质量控制
Eur J Cancer. 2002 Jan;38(1):23-6. doi: 10.1016/s0959-8049(01)00351-3.
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Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.携带BRCA1或BRCA2基因突变的女性在双侧预防性乳房切除术后发生的乳腺癌。
N Engl J Med. 2001 Jul 19;345(3):159-64. doi: 10.1056/NEJM200107193450301.
6
Clinical follow-up after bilateral risk reducing ('prophylactic') mastectomy: mental health and body image outcomes.双侧降低风险(“预防性”)乳房切除术后的临床随访:心理健康和身体形象结果。
Psychooncology. 2000 Nov-Dec;9(6):462-72. doi: 10.1002/1099-1611(200011/12)9:6<462::aid-pon485>3.0.co;2-j.
7
Intention to undergo prophylactic bilateral mastectomy in women at increased risk of developing hereditary breast cancer.有患遗传性乳腺癌风险增加的女性进行预防性双侧乳房切除术的意向。
J Clin Oncol. 2000 Jun;18(11):2250-7. doi: 10.1200/JCO.2000.18.11.2250.
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Should women at increased risk for breast and ovarian cancer be randomized to prophylactic surgery? An ethical and empirical assessment.
J Womens Health Gend Based Med. 2000 Apr;9(3):223-33. doi: 10.1089/152460900318434.
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Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer.对有乳腺癌和卵巢癌遗传易感性的女性进行预防性手术。
J Clin Oncol. 2000 May;18(9):1980-95. doi: 10.1200/JCO.2000.18.9.1980.
10
Women's regrets after bilateral prophylactic mastectomy.
Ann Surg Oncol. 2000 Mar;7(2):150-4. doi: 10.1007/s10434-000-0150-6.