在年轻发病的结直肠癌患者的生殖基因检测中存在缺陷
Hannah Ficarino1, Ben Cage2, Jean Paul Osula2
1Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA.
American journal of surgery
|February 1, 2024
概括
只有三分之一的早期结直肠癌患者完成了基因检测. 瘤治疗和强烈的家族癌症史增加了测试的可能性.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症研究 癌症研究
背景情况:
- 年轻发作的结直肠癌 (YO-CRC) 与高发病率的生殖系遗传变异有关.
- 在YO-CRC患者中影响生殖系遗传测试完成的因素尚不清楚.
研究的目的:
- 确定与生殖线多基因小组测试在年轻发病的结直肠癌患者中完成测试相关的因素.
主要方法:
- 在2014-2021年期间接受治疗的100名Yo-CRC患者 (年龄 ≤50岁) 的回顾性审查.
- 主要结果:完成生殖线多基因小组测试.
- 分析与测试完成相关的变量.
主要成果:
- 只有31%的YO-CRC患者完成了基因检测.
- 在接受化疗的患者中,测试率显著更高 (39.8%对5.9%,p=0.01).
- 测试的可能性增加与更强的癌症家族史相关 (p<0.01).
结论:
- 在YO-CRC患者中,生殖基因检测的完成率仍然很低.
- 接受化疗和强烈的家族癌症病史与更高的检测率有关.
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