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Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China.
- Source :
-
Molecular medicine reports [Mol Med Rep] 2018 Dec; Vol. 18 (6), pp. 5361-5370. Date of Electronic Publication: 2018 Oct 17. - Publication Year :
- 2018
-
Abstract
- Previous studies have identified recurrent oncogenic mutations in colorectal cancer (CRC), but there is limited CRC genomic data from the Chinese Han population. Whole‑genome sequencing was performed on 10 primary CRC tumors and matched adjacent normal tissues from patients from the Han population in Shanghai, at an average of 27.8x and 27.9x coverage, respectively. In the 10 tumor samples, 32 significant somatic mutated genes were identified, 13 of which were also reported as CRC mutations in The Cancer Genome Atlas Network. All the mutated genes were enriched in functions associated with channel activity, which has rarely been reported in previous studies investigating CRC. Furthermore, 21 chromosomal rearrangements were detected and 4 rearrangements encoded predicted in‑frame fusion proteins, including a fusion of phosphorylase kinase regulatory subunit b and NOTCH2 demonstrated in 2 out of 10 tumors. Chromosome 8 was amplified in 1 tumor and chromosome 20 was amplified in 2 out of 10 CRC patients. The present study produced a genomic mutation profile of CRC, which provides a valuable resource for further insight into the mutations that characterize CRC in patients from the Han population in Shanghai, eastern China.
- Subjects :
- Adult
Aged
Aged, 80 and over
China epidemiology
Colorectal Neoplasms diagnosis
Computational Biology methods
DNA Copy Number Variations
DNA Mutational Analysis
Female
Humans
Male
Middle Aged
Neoplasm Staging
Population Surveillance
Whole Genome Sequencing
Colorectal Neoplasms epidemiology
Colorectal Neoplasms genetics
Genetic Predisposition to Disease
Genome-Wide Association Study
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1791-3004
- Volume :
- 18
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Molecular medicine reports
- Publication Type :
- Academic Journal
- Accession number :
- 30365144
- Full Text :
- https://doi.org/10.3892/mmr.2018.9563