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乳腺癌诊断后生殖系基因检测类型及结果与患者癌症担忧的关联

Association of Germline Genetic Test Type and Results With Patient Cancer Worry After Diagnosis of Breast Cancer.

作者信息

Katz Steven J, Ward Kevin C, Hamilton Ann S, Abrahamse Paul, Hawley Sarah T, Kurian Allison W

机构信息

University of Michigan.

Emory University, Atlanta, GA.

出版信息

JCO Precis Oncol. 2018;2018. doi: 10.1200/PO.18.00225. Epub 2018 Dec 19.

Abstract

BACKGROUND

There are concerns that multigene panel testing compared with BRCA1/ 2-only testing after diagnosis of breast cancer may lead to unnecessary patient worry about cancer because of more ambiguous results.

METHODS

Patients with breast cancer diagnosed from 2013 to 2015 and accrued from SEER registries in Georgia and Los Angeles were surveyed (n = 5,080; response rate, 70%), and responses were merged with SEER data and germline genetic testing and results. We examined patient reports of cancer worry by test type and results in 1,063 women who linked to a genetic test and reported undergoing testing.

RESULTS

More than half of the sample (n = 640; 60.2%) received BRCA1/2-only testing versus 423 patients (39.8%) who had a multigene panel. A minority of tested patients reported substantial cancer worry after treatment: 11.1% (n = 130) reported higher impact of cancer worry, and 15.1% (n = 162) reported a high frequency of cancer worry (worrying often or almost always) in the past month. Impact of cancer worry did not substantively differ by test type, test result outcomes, or clinical or treatment factors. The odds ratio for higher impact of cancer worry was 0.81 (95% CI, 0.51 to 1.28) for multigene versus -only testing. In a separate model, the odds ratios were 1.21 (95% CI, 0.54 to 2.68) and 0.90 (95% CI, 0.50 to 1.62) for pathogenic variant and variant of uncertain significance, respectively, versus a negative test (the reference group).

CONCLUSION

Compared with testing alone, multigene panel testing was not associated with increased cancer worry after diagnosis of breast cancer.

摘要

背景

有人担心,与乳腺癌诊断后仅进行BRCA1/2检测相比,多基因检测可能会因结果更不明确而导致患者对癌症产生不必要的担忧。

方法

对2013年至2015年在佐治亚州和洛杉矶的监测、流行病学和最终结果(SEER)登记处确诊的乳腺癌患者进行了调查(n = 5,080;回复率为70%),并将回复与SEER数据、种系基因检测及结果进行合并。我们在1,063名与基因检测相关并报告接受检测的女性中,按检测类型和结果检查了患者对癌症担忧的报告。

结果

超过一半的样本(n = 640;60.2%)仅接受了BRCA1/2检测,而423名患者(39.8%)进行了多基因检测。少数接受检测的患者在治疗后报告有严重的癌症担忧:11.1%(n = 130)报告癌症担忧影响较大,15.1%(n = 162)报告在过去一个月中癌症担忧频率较高(经常或几乎总是担忧)。癌症担忧的影响在检测类型、检测结果、临床或治疗因素方面没有实质性差异。多基因检测与仅检测相比,癌症担忧影响较大的优势比为0.81(95%置信区间,0.51至1.28)。在另一个模型中,与阴性检测(参照组)相比,致病性变异和意义不明确变异的优势比分别为1.21(95%置信区间,0.54至2.68)和0.90(95%置信区间,0.50至1.62)。

结论

与仅进行BRCA1/2检测相比,多基因检测与乳腺癌诊断后癌症担忧增加无关。

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