GRCh38 · COSMIC v98


This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Circulating tumor DNA detectable in early- and late-stage colorectal cancer patients.
Paper ID
Yang YC, Wang D, Jin L, Yao HW, Zhang JH, Wang J, Zhao XM, Shen CY, Chen W, Wang XL, Shi R, Chen SY and Zhang ZT
Molecular Microbiology & Immunology and Norris Comprehensive Cancer Center, Beijing Friendship Hospital, Capital Medical University, No.95 Yong-an Road, Xi-Cheng District, Beijing, 100050, China.
Bioscience reports, 2018
ISSN: 1573-4935
PMID: 29914973 (view at PubMed or Europe PMC)
Characterization, diagnosis, and treatment of colorectal cancers (CRC) are difficult due to limited biopsy information, impracticality of repeated biopsies, and cancer biomarker fallibility. Circulating tumor DNA (ctDNA) has recently been investigated as a non-invasive way to gain representative gene mutations in tumors, in addition to monitoring disease progression and response to treatment. We analyzed ctDNA mutations and concentrations in 47 early- and late-stage CRC patients using a targeted sequencing approach using a panel that covers 50 cancer-related genes.   ctDNA mutations in 37 genes  ( were identified in 93.6% of the patients (n=47).  The results showed that <i>TP53</i> , <i>PIK3CA</i> , <i>APC</i> , and <i>EGFR</i> were the most frequently mutated genes. Stage IV patients had significantly higher ctDNA concentration than stage I patients, and increased ctDNA concentration correlated with increased tumor size. Additionally, ctDNA detection was found to be a greater predictor of disease when compared to five known commonly used tumor biomarkers. Our study supports the use of ctDNA as a liquid biopsy to gain clinical tumor information that may facilitate early diagnosis and treatment and improve CRC patient prognosis.
Paper Status