通过社区基基因检测计划识别患有癌症风险较高的患者
Danielle Brabender1, Emily Siegel2, Julie O Culver3
1Department of Surgery, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA. Danielle.brabender@med.usc.edu.
社区基因查确定了符合NCCN指南的妇女的遗传性癌症风险. 该计划扩大了对测试的访问,使得早期癌症检测和预防措施成为可能.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 尽管国家综合癌症网络 (NCCN) 的指导方针存在,但对遗传性癌症的基因查的获取有限.
- 基于社区的计划可以提高查的可访问性,并识别有风险的个人.
研究的目的:
- 评估社区医院遗传性癌症基因查计划的有效性.
- 识别具有致病性/可能致病性 (P/LP) 变异的个体,并评估癌症查和手术建议的潜在变化.
主要方法:
- 对接受乳房影像和遗传检测的妇女的回顾性审查 (2020年8月 - 2023年5月).
- 对P/LP变种的遗传测试结果的分析.
- 应用NCCN指南来确定癌症查和积极病例的手术建议.
主要成果:
- 在14192名女性中,3224名 (23%) 符合NCCN标准;50.3%选择进行测试.
- 7.6%的测试结果对18个基因的P/LP变异呈阳性,其中CHEK2和MUTYH是最常见的.
- 阳性结果表明乳腺癌 (52%),结肠癌 (45%),卵巢癌 (31%) 和其他癌症的风险增加,促使查 (例如,早期的乳房镜,结肠镜) 和手术建议的潜在变化.
结论:
- 基于社区的遗传计划有效地识别了具有增加遗传癌症风险的个体.
- 这些计划促进及时干预,包括加强查和降低风险的手术,以潜在地降低癌症发病率和死亡率.
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