Signature of genetic associations in oral cancer

Abstract

Oral cancer etiology is complex and controlled by multi-factorial events including genetic events. Candidate gene studies, genome-wide association studies, and next-generation sequencing identified various chromosomal loci to be associated with oral cancer. There is no available review that could give us the comprehensive picture of genetic loci identified to be associated with oral cancer by candidate gene studies-based, genome-wide association studies-based, and nextgeneration sequencing-based approaches. A systematic literature search was performed in the PubMed database to identify the loci associated with oral cancer by exclusive candidate gene studies-based, genome-wide association studies-based, and next-generation sequencing-based study approaches. The information of loci associated with oral cancer is made online through the resource "ORNATE." Next, screening of the loci validated by candidate gene studies and next-generation sequencing approach or by two independent studies within candidate gene studies or nextgeneration sequencing approaches were performed. A total of 264 loci were identified to be associated with oral cancer by candidate gene studies, genome-wide association studies, and next-generation sequencing approaches. In total, 28 loci, that is, 14q32.33, and 5q14.2 (XRCC4), were validated to be associated with oral cancer. "ORNATE" gives a snapshot of genetic loci associated with oral cancer. All 28 loci were validated to be linked to oral cancer for which further fine-mapping followed by geneby-gene and gene-environment interaction studies is needed to confirm their involvement in modifying oral cancer.

DKK3 knockdown confers negative effects on the malignant potency of head and neck squamous cell carcinoma cells via the PI3K/Akt and MAPK signaling pathways

“…It is widely accepted that HNSCC occurs as a result of cumulative genetic/epigenetic abnormalities in cancer-associated genes. However, to date, a limited number of genes have been reported as candidate somatic drivers for HNSCC, including tumor protein p53 (19), Akt1, APC, CCND1, fibroblast growth factor receptor 3 (FGFR3), NOTCH1, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PI3KCA), and phosphatase and tensin homolog (PTEN) (20)(21)(22)(23)(24). In addition, the HNSCC-specific cancer-associated genes/pathways are not well illustrated.…”

Tumor‐infiltrating lymphocyte‐derived MLL2 independently predicts disease‐free survival for patients with early‐stage oral squamous cell carcinoma

“…Accumulating studies identified MLL2 as a frequent mutated gene in congenital heart diseases and developmental diseases, such as Kabuki syndrome, for alternating of epigenetic and transcriptional regulation by nonsense mutating, splice‐site mutating, small deleting or inserting, and missense mutating . MLL2 also involved into the carcinogenesis of oral cancer by next‐generation sequencing (NGS), specifically, frequently altered in gingivo‐buccal oral squamous cell carcinoma . MLL2 also disrupt enhancer activity and transcription of genes to destruct cell stability during carcinogenesis …”

The XRCC4 rs1805377 polymorphism is not associated with the risk of cancer: An updated meta-analysis

“…13 This polymorphic locus was reported to be involved in the occurrence of different cancers and the tumor diffusing capacity. [14][15][16][17][18] However, the findings of these studies are inconclusive because of small population sizes, genetic heterogeneity of samples, and other forms of possible confounding bias.…”