Targeted molecular profiling of genetic alterations of colorectal cancer using next-generation sequencing
Source: CNGBdb Project (ID CNP0000601)
Source: CNGBdb Project (ID CNP0000601)
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Description: Colorectal cancer (CRC) is a major contributor to cancer incidence and mortality in China and also remains a huge challenge to the world. Though the genetic basis of CRC has been well studied, little has been known regarding the uncommonly mutated genes, particularly in the CRC samples from Asian population. In this study, we performed targeted region sequencing on 22 CRC and 10 paired non-cancerous tissues to explore the genetic pattern of CRC samples among Chinese population. Totally 1335 reliable somatic mutations were identified. Mismatch-repair (MMR)-mutant patients showed significantly higher mutation density than MMR wide-type patients. MutSigCV, oncodriveFM and iCAGES simultaneously detected a total of 29 consensus unique driver genes and APC, SMAD4, NF1, ARID5B and NCOR1 were the top five most frequently mutated genes in colorectal cancer patients, the mutation rates were 68%, 36%, 36%, 32% and 27%, respectively. The discoveries in our study can contribute to the future studies in the diagnosis and oncogenesis of colorectal cancer.
Data type: Raw sequence reads
Sample scope: Monoisolate
Relevance: Medical
Submitter: 美华 谭; 中国科学院大学
Literatures
- PMID: 31966042
Release date: 2019-09-30
Last updated: 2019-07-20
DOI: 10.26036/CNP0000601
Data size: 8.08GB