Rummel Seth K, Lovejoy Leann A, Turner Clesson E, Shriver Craig D, Ellsworth Rachel E
Chan Soon-Shiong Institute of Molecular Medicine at Windber, 620 Seventh Street, Windber, PA 15963, USA.
Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA.
Cancers (Basel). 2020 Jan 17;12(1):234. doi: 10.3390/cancers12010234.
Currently, genetic testing is offered only to women diagnosed with breast cancer who meet a defined set of criteria and is not included as standard-of-care treatment at the time of diagnosis. Thus, a significant number of women diagnosed with breast cancer may miss the opportunity for precision medical treatment and risk management. The effects of eligibility, timing, and uptake of genetic testing were evaluated in a cohort of women with invasive breast cancer diagnosed between 2001-2018. Risk status was estimated using NCCN testing criteria and panel testing was performed for all women who had genomic DNA available. Of the 1231 women, 57.8% were eligible for genetic testing. Uptake of testing within high-risk women was 42.7% of which 6.6% pursued clinical testing only after a second tumor event. Mutation frequencies were 15.8%, 5.5%, and 4.0% in high-risk women with clinical testing, high-risk women without clinical testing, and low-risk women, respectively. More than 4% of all patients harbored pathogenic or likely pathogenic mutations detected only in the research setting. Inclusion of panel testing at the time of diagnosis would allow for appropriate surveillance and treatment strategies to be employed to reduce the risk of secondary tumors and improve patient outcome.
目前，基因检测仅提供给符合特定标准的乳腺癌确诊女性，且在诊断时不被纳入标准治疗方案。因此，大量乳腺癌确诊女性可能会错过精准医疗和风险管理的机会。在2001年至2018年间确诊为浸润性乳腺癌的女性队列中，评估了基因检测的资格、时间和接受情况。使用美国国立综合癌症网络（NCCN）检测标准估计风险状态，并对所有有基因组DNA的女性进行基因检测。在1231名女性中，57.8%符合基因检测条件。高危女性的检测接受率为42.7%，其中6.6%仅在第二次肿瘤事件后才进行临床检测。在接受临床检测的高危女性、未接受临床检测的高危女性和低危女性中，突变频率分别为15.8%、5.5%和4.0%。超过4%的所有患者携带仅在研究环境中检测到的致病性或可能致病性突变。在诊断时纳入基因检测将有助于采用适当的监测和治疗策略，以降低继发性肿瘤的风险并改善患者预后。
