在（遗传选择）压力下：人类肿瘤和缺氧环境下的人类种群。

IF 29.7 1区医学 Q1 ONCOLOGY

Cancer discovery Pub Date : 2025-04-30 DOI:10.1158/2159-8290.cd-25-0175

Frank S Lee

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引用次数: 0

摘要

Arenillas及其同事报道，在青紫型先天性心脏病引起的慢性缺氧情况下，嗜铬细胞瘤和副神经节瘤在EPAS1基因中高频存在体细胞功能获得性突变，EPAS1基因编码缺氧诱导因子复合体的一个氧不稳定亚基。有趣的是，EPAS1等位基因的生殖系功能丧失在不同的慢性缺氧条件下（即高海拔）的人群中是在自然选择下发生的。参见Arenillas等人的相关文章，第XX页。

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Under (Genetic Selection) Pressure: Human Tumors and Human Populations in Hypoxia.

Arenillas and colleagues report that pheochromocytomas and paragangliomas in the setting of chronic hypoxia due to cyanotic congenital heart disease harbor, at high frequency, somatic gain-of-function mutations in the EPAS1 gene, which encodes for one of the oxygen-labile subunits of the hypoxia-inducible factor complex. Interestingly, germline loss-of-function EPAS1 alleles are under natural selection in human populations subjected to a different chronic hypoxia condition, namely, high altitude. See related article by Arenillas et al., p. XX.

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来源期刊

Cancer discovery ONCOLOGY-

CiteScore

22.90

自引率

1.40%

发文量

838

审稿时长

6-12 weeks

期刊介绍： Cancer Discovery publishes high-impact, peer-reviewed articles detailing significant advances in both research and clinical trials. Serving as a premier cancer information resource, the journal also features Review Articles, Perspectives, Commentaries, News stories, and Research Watch summaries to keep readers abreast of the latest findings in the field. Covering a wide range of topics, from laboratory research to clinical trials and epidemiologic studies, Cancer Discovery spans the entire spectrum of cancer research and medicine.