[BRCA1和BRCA2基因突变：遗传性乳腺癌和卵巢癌患者的临床管理]

[BRCA1- and BRCA2 mutations: Clinical management of patients with hereditary breast and ovarian cancer].

作者信息

Pristauz Gunda, Geigl Jochen B, Petru Edgar

机构信息

Klinische Abteilung für Gynäkologie, Universitätsklinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität Graz, Graz, Osterreich.

出版信息

Wien Med Wochenschr. 2010 Apr;160(7-8):158-62. doi: 10.1007/s10354-010-0772-7.

DOI:10.1007/s10354-010-0772-7

PMID:20473725

Abstract

BACKGROUND

In total, 5-10% of all breast cancer cases are related to gen mutations. In most cases a mutation in the BRCA1-gen and BRCA2-gen is responsible for insufficient repair of DNA damages that cause breast and ovarian cancer.

CLINICAL MANAGEMENT

In patients carrying BRCA1-mutation the risk for developing breast and ovarian cancer is 87% and 40% as well as 47% and 20% for those carrying a BRCA2-mutation. Women at hereditary risk should be informed about existing recommendations for surveillance. Primary prevention of breast and ovarian cancer including prophylactic surgery (bilateral salpingoophorectomy and bilateral mastectomy) should be explained to mutation carriers. The issue of oral antihormonal therapy for prevention of breast cancer should be addressed. Psycho-social support should be offered to mutation carriers.

CONCLUSIONS

The clinical management of BRCA1 and BRCA2-mutation carriers is very challenging and should be done in centres specialized in this issue.

摘要

背景

在所有乳腺癌病例中，总计5%-10%与基因变异有关。在大多数情况下，BRCA1基因和BRCA2基因的突变会导致DNA损伤修复不足，进而引发乳腺癌和卵巢癌。

临床管理

携带BRCA1基因突变的患者患乳腺癌和卵巢癌的风险分别为87%和40%，携带BRCA2基因突变的患者则分别为47%和20%。应告知有遗传风险的女性现有监测建议。对于突变携带者，应解释包括预防性手术（双侧输卵管卵巢切除术和双侧乳房切除术）在内的乳腺癌和卵巢癌一级预防措施。应讨论口服抗激素疗法预防乳腺癌的问题。应为突变携带者提供心理社会支持。