在患有胰腺癌和周围肺癌的患者中发生生殖系致病变体
Yohei Ando1, Mohamad Dbouk1, Takeichi Yoshida1
1Departments of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, MD.
JCO precision oncology
|May 23, 2024
概括
生殖线变异在胰腺癌和非胰腺癌周边瘤癌中都很常见. 建议对所有患有周围瘤的患者进行癌症易感性的遗传检测.
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:
- 在没有家族病史的情况下,遗传的癌症易感性往往被忽视.
- 胰腺癌易感性基因得到了充分研究,但对其他周癌症的数据有限.
研究的目的:
- 为了比较患有胰腺癌患者和非胰腺周围瘤癌患者的生殖癌易感性变异的流行率.
- 评估遗传检测对周围瘤的有用性.
主要方法:
- 在608名接受胰腺突切除的患者中测序了20个癌症敏感性基因.
- 包括患有胰腺管道腺癌,囊癌,远端常见胆道癌和十二指胆道腺癌的患者.
- 使用ClinVar和PubMed.Med解释的变体.
主要成果:
- 在7.7%的患者中确定了致病或可能致病的变异 (8.5%的胰腺,7.1%的非胰腺).
- 主要的变异包括BRCA2,ATM,BRCA1,CDKN2A,MSH2/MLH1和PALB2.1,这些变异都存在.
- 在另外1.8%的患者中发现了低透性变体.
结论:
- 致病性癌症易感性变异的患病率在胰腺癌和非胰腺周围瘤癌中相似.
- 应考虑对所有患有围癌的患者进行生殖线敏感性测试.
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