乳腺癌的8年数据,基因测序受患者青睐
2016/02/24
2016年2月11日,《JAMA Oncology》杂志报道了年轻乳腺癌患者BRCA基因检测的调查报告,经调查发现,近年来乳腺癌年轻患者接受BRCA检测的概率在不断增加


随着基因测序技术的发展,成本不断降低,活跃在市场上的乳腺癌基因测序产品也越来越多。然而,患者对乳腺癌BRCA测序持何态度?BRCA基因测序是否对患者的治疗决策有影响?2016年2月11日,《JAMA Oncology》杂志报道了年轻乳腺癌患者BRCA基因检测的调查报告,经调查发现,近年来乳腺癌年轻患者接受BRCA检测的概率在不断增加。

被诊断有乳腺癌的年轻女性通常被建议进行BRCA检测,但测试结果对医疗决定和患者的影响却有很大的未知。为了描述乳腺癌年轻患者的BRCA检测情况,评估遗传风险以及判断基因信息对治疗决定的影响,研究人员对11个学术社区医疗中心的897名40岁以下乳腺癌患者进行调查。调查指标为BRCA检测的使用频率及趋势、如何利用基因信息对BRCA突变检测为阳性及阴性的女性进行治疗决策。

大约有87%(780名)的女性在乳腺癌诊断一年后接受了BRCA检测。从2006年至2013年,BRCA检测率持续上升,2006年,被诊断为乳腺癌的39名女性中有30名接受了BRCA检测(76.9%),2007年接受BRCA检测的比例略有降低,为70.2%,然而,在随后的几年里,BRCA检测的频率持续上升,2012年和2013年BRCA的检测率分别为96.6%和95.3%。在未接受BRCA检测的女性中,31.6%的患者病史中未涉及突变话题,然而有43%的患者考虑将来接受BRCA检测。

在831名女性中,其中248名(29.8%)担心遗传风险信息会对手术治疗决策有影响,在这些女性中,86.4%的突变携带者和51.2%的非突变携带者选择了双侧乳房切除术;很少有女性担心系统性治疗决策受遗传风险的影响。

作者最后得出结论:BRCA1和BRCA2突变检测在乳腺癌年轻患者中不断增加。鉴于对遗传风险影响手术决策的担忧,应根据美国国家综合癌症网络指南对所有乳腺癌患者进行指导并提供基因检测。

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  • BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer

    Importance BRCA testing is recommended for young women diagnosed as having breast cancer, but little is known about decisions surrounding testing and how results may influence treatment decisions in young patients. Objectives To describe the use of BRCA testing and to evaluate how concerns about genetic risk and use of genetic information affect subsequent treatment decisions in young women with breast cancer. Design, Setting, and Participants Cross-sectional analysis of data collected following the opening of the study to accrual from October 10, 2006, through December 31, 2014, as part of the Helping Ourselves, Helping Others: Young Women’s Breast Cancer Study, an ongoing prospective cohort study. Study participants included 897 women aged 40 years and younger at breast cancer diagnosis from 11 academic and community medical centers. Main Outcomes and Measures Frequency and trends in the use of BRCA testing and how genetic information is used to make treatment decisions among women who test positive vs negative for a BRCA mutation. Results A total of 780 (87.0%) of 897 women reported BRCA testing by 1 year after breast cancer diagnosis (mean age at diagnosis, 35.3 vs 36.9 years for untested women; P < .001), with the frequency of testing increasing among women diagnosed from August 1, 2006, through December 31, 2013. Of 39 women who were diagnosed as having breast cancer in 2006, 30 (76.9%) reported testing. In 2007, a slightly lower percentage of women (87 of 124 [70.2%]) reported testing; however, the proportion tested increased each subsequent year, with 141 (96.6%) of 146 and 123 (95.3%) of 129 women diagnosed as having breast cancer in 2012 and 2013, respectively, reporting BRCA testing (P < .001). Among untested women, 37 (31.6%) of 117 did not report discussion of the possibility that they might have a mutation with a physician and/or genetic counselor, and 43 (36.8%) of 117 were thinking of testing in the future. A total of 248 (29.8%) of 831 women said that knowledge or concern about genetic risk influenced surgical treatment decisions; among these women, 76 (86.4%) of 88 mutation carriers and 82 (51.2%) of 160 noncarriers chose bilateral mastectomy (P < .001). Fewer women reported that systemic treatment decisions were influenced by genetic risk concern. Conclusions and Relevance Rates of BRCA1 and BRCA2 mutation testing are increasing in young women with breast cancer. Given that knowledge and concern about genetic risk influence surgical decisions and may affect systemic therapy trial eligibility, all young women with breast cancer should be counseled and offered genetic testing, consistent with the National Comprehensive Cancer Network guidelines.

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