克拉斯
神经母细胞瘤RAS病毒癌基因同源物
结直肠癌
PTEN公司
肿瘤科
医学
内科学
队列
赫拉
阶段(地层学)
癌症
分子诊断学
靶向治疗
癌症研究
生物信息学
生物
遗传学
PI3K/AKT/mTOR通路
古生物学
细胞凋亡
作者
Simon Haefliger,Katharina Marston,Ilaria Alborelli,Edouard-Jean Stauffer,Mathias Gugger,Philip Jermann,Sylvia Hoeller,Luigi Tornillo,Luigi Terracciano,Michel Bihl,Matthias S. Matter
出处
期刊:Pathobiology
[S. Karger AG]
日期:2022-10-06
卷期号:90 (3): 166-175
摘要
Colorectal carcinoma (CRC) is among the most common carcinomas in women and men. In the advanced stage, patients are treated based on the RAS status. Recent studies indicate that in the future, in addition to KRAS and NRAS, alterations in other genes, such as PIK3CA or TP53, will be considered for therapy. Therefore, it is important to know the mutational landscape of routinely diagnosed CRC.We report the molecular profile of 512 Swiss CRC patients analyzed by targeted next-generation sequencing as part of routine diagnostics at our institute.Pathogenic and likely pathogenic variants were found in 462 (90%) CRC patients. Variants were detected in TP53 (54.3%), KRAS (48.2%), PIK3CA (15.6%), BRAF (13.5%), SMAD4 (10.5%), FBXW7 (7.8%), NRAS (3.5%), PTEN (2.7%), ERBB2 (1.6%), AKT1 (1.5%), and CTNNB1 (0.9%). The remaining pathogenic alterations were found in the genes ATM(n= 1), MAP2K1(n= 1), and IDH2(n= 1).Our analysis revealed the prevalence of potential predictive markers in a large cohort of CRC patients obtained during routine diagnostic analysis. Furthermore, our study is the first of this size to uncover the molecular landscape of CRC in Switzerland.
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