Characterization of genomic alterations in Chinese colorectal cancer patients with liver metastases

نویسندگان

چکیده

Abstract Background The exploration of genomic alterations in Chinese colorectal liver metastasis (CRLM) is limited, and corresponding genetic biomarkers for patient’s perioperative management are still lacking. This study aims to understand genome diversification complexity that developed CRLM. Methods A custom-designed IDT capture panel including 620 genes was performed the CRLM cohort, which included 396 tumor samples from metastatic lesions together with 133 available paired primary tumors. Results In this top-ranked recurrent mutated were TP53 (324/396, 82%), APC (302/396, 76%), KRAS (166/396, 42%), SMAD4 (54/396, 14%), FLG (52/396, 13%) FBXW7 (43/396, 11%). comparison derived left- right-sided confirmed difference survival patients different sites could be driven by variations transforming growth factor β (TGF-β), phosphatidylinositol 3-kinase (PI3K) RAS signaling pathways. Certain had a higher variant rate metachronous than simultaneous metastasis. Overall, displayed highly consistent alterations, but there some differences between individually metastases tumors, mainly caused copy number variations. Conclusion We provide comprehensive depiction CRLM, providing fundamental basis further personalized therapy applications.

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ژورنال

عنوان ژورنال: Journal of Translational Medicine

سال: 2021

ISSN: ['1479-5876']

DOI: https://doi.org/10.1186/s12967-021-02986-0