PDF(Pubmed)
Abstract：
With the widespread of colonoscopy, colorectal cancer remains to be one of the most detrimental types of cancer. Though there were multiple studies investigating the genomic landscape of colorectal cancer, a comprehensive analysis uncovering the differences between various types of colorectal cancer is still lacking. In our study, we performed genomic analysis on 133 patients with colorectal cancer. Mutated FAT1 and PKHD1 and altered Hippo pathway genes were found to be enriched in early-onset colorectal cancer. APOBEC signature was prevalent in microsatellite stable (MSS) patients and was related to lymph node metastasis. ZNF217 mutations were significantly associated with early-stage colorectal cancer. In all, this study represents a comprehensive genomic analysis uncovering potential molecular mechanisms underneath different subgroups of colorectal cancer thus providing new targets for precision treatment development.
摘要：
随着结肠镜检查的广泛开展,结直肠癌仍然是最有害的癌症之一。尽管有多项研究调查了结直肠癌的基因组景观，目前还缺乏全面分析发现不同类型结直肠癌之间的差异.在我们的研究中,我们对133例结直肠癌患者进行了基因组分析.发现突变的FAT1和PKHD1和改变的Hippo途径基因在早发性结直肠癌中富集。APOBEC特征在微卫星稳定（MSS）患者中普遍存在，并且与淋巴结转移有关。ZNF217突变与早期结直肠癌显著相关。总之,这项研究代表了一项全面的基因组分析,揭示了结直肠癌不同亚组的潜在分子机制,从而为精准治疗的发展提供了新的靶点.
