Real-world genomic landscape of colon and rectal cancer

IF 2.3 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY FEBS Open Bio Pub Date : 2025-01-26 DOI:10.1002/2211-5463.13957
Markus Schulze, XiaoZhe Wang, Jawad Hamad, Julia C. F. Quintanilha, Lincoln W. Pasquina, Julia F. Hopkins, Juergen Scheuenpflug, Zheng Feng
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Abstract

MAPK signaling activation is an important driver event in colorectal cancer (CRC) tumorigenesis that informs therapy selection, but detection by liquid biopsy can be challenging. We analyze real-world comprehensive genomic profiling (CGP) data to explore the landscape of alterations in BRAF or RAS in CRC patients (N = 51 982) and co-occurrence with other biomarkers. A pathogenic RAS or BRAF alteration was found in 63.2% and 57.9% of colon and rectal cancer samples, respectively. In a subset of 140 patients with both tissue- and liquid-based CGP, the sensitivity of liquid for results found by tissue was 100% when ctDNA tumor fraction was at least 1%, illustrating the utility of tissue and liquid biopsy in detecting driver alterations in CRC.

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结肠癌和直肠癌的真实基因组图谱。
MAPK信号激活是结直肠癌(CRC)肿瘤发生的一个重要驱动事件,为治疗选择提供信息,但通过液体活检检测可能具有挑战性。我们分析了真实世界的综合基因组谱(CGP)数据,以探索结直肠癌患者(N = 51 982) BRAF或RAS的改变及其与其他生物标志物的共现情况。在63.2%和57.9%的结肠癌和直肠癌样本中分别发现致病性RAS或BRAF改变。在140例基于组织和液体的CGP患者中,当ctDNA肿瘤分数至少为1%时,液体对组织发现结果的敏感性为100%,说明了组织和液体活检在检测CRC驱动改变方面的效用。
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来源期刊
FEBS Open Bio
FEBS Open Bio BIOCHEMISTRY & MOLECULAR BIOLOGY-
CiteScore
5.10
自引率
0.00%
发文量
173
审稿时长
10 weeks
期刊介绍: FEBS Open Bio is an online-only open access journal for the rapid publication of research articles in molecular and cellular life sciences in both health and disease. The journal''s peer review process focuses on the technical soundness of papers, leaving the assessment of their impact and importance to the scientific community. FEBS Open Bio is owned by the Federation of European Biochemical Societies (FEBS), a not-for-profit organization, and is published on behalf of FEBS by FEBS Press and Wiley. Any income from the journal will be used to support scientists through fellowships, courses, travel grants, prizes and other FEBS initiatives.
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