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• W3010981231 abstract "Abstract DNA copy number aberrations (CNA) are frequently observed in colorectal cancers (CRC) . There is an urgent need for CNA-based biomarkers in clinics,. n For Stage III CRC, if combined with imaging or pathologic evidence, these markers promise more precise care. We conducted this Stage III specific biomarker discovery with a cohort of 134 CRCs, and with a newly developed high-efficiency CNA profiling protocol. Specifically, we developed the profiling protocol for tumor-normal matched tissue samples based on low-coverage clinical whole-genome sequencing (WGS) . We demonstrated the protocol’s accuracy and robustness by a systematic benchmark with microarray, high-coverage whole-exome and -genome approaches, where the low-coverage WGS-derived CNA segments were highly accordant (PCC >0.95) with those derived from microarray, and they were substantially less variable if compared to exome-derived segments. A lasso-based model and multivariate cox regression analysis identified a chromosome 17p loss, containing the TP53 tumor suppressor gene, that was significantly associated with reduced survival (P = 0.0139, HR = 1.688, 95% CI = [1.112–2.562]), which was validated by an independent cohort of 187 Stage III CRCs. In summary, this low-coverage WGS protocol has high sensitivity, high resolution and low cost and the identified 17p-loss is an effective poor prognosis marker for Stage III patients." @default.
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• W3010981231 date "2020-03-19" @default.
• W3010981231 modified "2023-10-16" @default.
• W3010981231 title "Whole genome analysis identifies the association of TP53 genomic deletions with lower survival in Stage III colorectal cancer" @default.
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• W3010981231 doi "https://doi.org/10.1038/s41598-020-61643-6" @default.
• W3010981231 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7081316" @default.
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