Background: This study aimed to identify new genes associated with CRC in patients with normal mismatch repair (MMR) protein expression.
Method: Whole-genome sequencing (WGS) was performed in seven early-age-onset Malay CRC patients. Potential germline genetic variants, including single-nucleotide variations and insertions and deletions (indels), were prioritized using functional and predictive algorithms.
Results: An average of 3.2 million single-nucleotide variations (SNVs) and over 800 indels were identified. Three potential candidate variants in three genes- and -which were predicted to affect protein function, were identified in three Malay CRC patients. In addition, 19 candidate genes- and -harbouring nonsense variants were prioritised. These genes are suggested to play a role in cancer predisposition and to be associated with cancer risk. Pathway enrichment analysis indicated significant enrichment in the olfactory signalling pathway.
Conclusion: This study provides a new spectrum of insights into the potential genes, variants and pathways associated with CRC in Malay patients.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471947 | PMC |
| http://dx.doi.org/10.3390/genes12091448 | DOI Listing |
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