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男性BRCA突变携带者的咨询:综述

Counseling for male BRCA mutation carriers: a review.

作者信息

Mohamad Hussain B, Apffelstaedt Justus P

机构信息

Breast Clinic, Department of Surgery, University of Stellenbosch, Tygerberg, Cape Town, South Africa.

出版信息

Breast. 2008 Oct;17(5):441-50. doi: 10.1016/j.breast.2008.05.001. Epub 2008 Jul 26.

DOI:10.1016/j.breast.2008.05.001
PMID:18657973
Abstract

BRCA mutations in women confer a high risk for breast and ovarian cancers. The risks to male carriers are poorly understood and risk management strategies undescribed. This review summarizes current evidence and gives recommendations for counseling male BRCA mutation carriers. Reported risks for breast, prostate, pancreatic, gastric and hematologic cancers are higher in male BRCA mutation carriers vs non-carriers. Especially in male BRCA2 mutation carriers under age 65 prostate and pancreatic cancer risks are increased. The risk increase for primary cancers of organs like the liver, bone and brain is difficult to assess as these organs are common sites for metastases. Reports on colorectal cancer and melanoma risks are inconclusive. On the current limited evidence available, male BRCA mutation carriers should be regarded as at high risk for breast, prostate, gastric, pancreatic and colorectal cancers; surveillance by appropriate investigations should start at age 40 years.

摘要

女性中的BRCA突变会使其患乳腺癌和卵巢癌的风险很高。男性携带者的风险了解甚少,且未描述风险管理策略。本综述总结了当前证据,并为男性BRCA突变携带者的咨询提供建议。与非携带者相比,男性BRCA突变携带者患乳腺癌、前列腺癌、胰腺癌、胃癌和血液系统癌症的报告风险更高。特别是65岁以下的男性BRCA2突变携带者,患前列腺癌和胰腺癌的风险增加。肝脏、骨骼和大脑等器官原发性癌症的风险增加难以评估,因为这些器官是转移的常见部位。关于结直肠癌和黑色素瘤风险的报告尚无定论。根据目前有限的现有证据,男性BRCA突变携带者应被视为患乳腺癌、前列腺癌、胃癌、胰腺癌和结直肠癌的高风险人群;应从40岁开始通过适当检查进行监测。

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