对BRCA相关癌症的风险评估,遗传咨询和遗传检测:美国预防服务工作组建议声明
, Douglas K Owens1,2, Karina W Davidson3
1Veterans Affairs Palo Alto Health Care System, Palo Alto, California.
JAMA
|August 21, 2019
概括
初级保健医生应对具有BRCA1/ 2相关癌症家族史的妇女进行基因风险评估. 没有这种病史的妇女不建议进行常规的遗传风险评估.
科学领域:
- 遗传学
- 癌症学
- 预防医学
背景情况:
- 在BRCA1/2基因的有害突变增加了乳腺,卵巢,输卵管和腹腔癌的风险.
- BRCA1/ 2突变占乳腺癌的5 - 10%和卵巢癌的15%.
- 这些突变在美国每300-500名女性中就会发生1例.
研究的目的:
- 更新2013年美国预防服务工作组 (USPSTF) 关于BRCA相关癌症风险评估,遗传咨询和测试的建议.
- 评估对BRCA1/2突变女性的干预措施.
主要方法:
- 美国PSTF审查了风险评估,遗传咨询和BRCA1/2突变检测的证据.
- 还审查了查,药物和手术等干预措施的证据.
- 该审查包括无症状妇女和有BRCA相关癌症史的妇女.
主要成果:
- 对于风险较高的妇女 (家庭/个人病史,祖先),评估,咨询,测试和干预的好处是适度的.
- 对于没有增加危险因素的妇女来说,好处很小.
- 对于所有女性来说,这些干预措施的整体危害都很小到中等.
结论:
- 临床医生应评估具有相关BRCA1/ 2突变风险的病史或祖先的妇女.
- 具有阳性风险评估的妇女应接受遗传咨询和检测.
- 没有风险因素的妇女不建议进行常规评估.
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