Clinical Significance of Genetic Variants in Colon Cancer

Nakashidze, Irina; Petrović, Nina; Kedelidze, Nino; Dariya, Begum

doi:10.1007/978-3-030-72702-4_4

Irina Nakashidze^4,5,
Nina Petrović^6,7,
Nino Kedelidze⁵ &
…
Begum Dariya⁸

508 Accesses
1 Citations

Abstract

Colon cancer (CC) is a serious global health problem detected, among other gastrointestinal (GI) tumors. Several risk factors suggested for the occurrence of CC include modifiable and nonmodifiable risk factors. Notably, the genetic risk factors play a crucial role in developing susceptible to CC. The molecular heterogeneity of CC also remains a significant and crucial aspect for personalized therapy. Therefore, detecting suitable molecular genetic biomarkers related to CC development are essential to support healthcare providers for therapy. However, the identification and characterization of the genetic variants clinically during the diagnosis for appropriate therapy still remain unclear. Determining the cancer susceptibility via genetic variants, including single-nucleotide polymorphism (SNPs), provides a new opportunity in the diagnostics. Thus, in this chapter, we revised the clinically significant genetic variants associated with CC based on the existing data. As suggested from the previous studies, the gene SNPs (APC, ATM, BRAF, BRCA1, DUSP10, MAP2K1, MLH1, MTHFR) are associated with colon cancer. The miRNA SNPs (rs8905 (PRKAR1A), rs8176318 (BRCA1)) and miRNA target SNPs as well (rs8905 (PRKAR1A), rs8176318 (BRCA1), let-7, miR-34b/c/146a/603, miR-149, miR-192a/608/27a SNPs) were also described that might affect and alter the genetic susceptibility of CC.

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Abbreviations

APC :: Adenomatous polyposis coli
ATM :: Ataxia telangiectasia mutated
BRAF :: B-Raf proto-oncogene, serine/threonine kinase
BRCA1 :: BRCA1, DNA repair associated
BRCA2 :: BRCA2, DNA repair associated
CC :: Colon cancer
CI :: Confidence interval
DUSP1 :: Dual-specificity phosphatase 1
DUSP10 :: Dual-specificity phosphatase 10
EGFR :: Epidermal growth factor receptor
FANCA :: FA complementation group A
FANCE :: Fanconi’s anemia complementation group
FISH:: Fluorescence in situ hybridization
GWAS:: Genome-wide association
LIG1:: DNA ligase 1
LSC:: The left-sided colon
MAP2K1 :: Mitogen-activated protein kinase 1
MLH1:: MutL homolog 1
MMR:: Mismatch repair
MSH2 :: MutS homolog 2
MSH6 :: MutS homolog 6
MSI:: Microsatellite instability
MSS:: Microsatellite stable
MTHFR :: Methylenetetrahydrofolate reductase
OOR :: Ordinal odds ratio
OS:: Overall survival
PMS2:: PMS1 homolog 2, mismatch repair system component
RC:: Right colon
SNPs:: Single nucleotide polymorphism
SULT2B1 :: Sulfotransferase family 2B member 1
TCGA :: Cancer Genome Atlas
VDR :: Vitamin D receptor
wt:: Wild-type

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Department of Clinical Medicine, Faculty of Natural Science and Health Care, Batumi Shota Rustaveli State University, Batumi, Georgia
Irina Nakashidze
Department of Biology, Faculty of Natural Science and Health Care, Batumi Shota Rustaveli State University, Batumi, Georgia
Irina Nakashidze & Nino Kedelidze
Laboratory for Radiobiology and Molecular Genetics, Department of Health and Environment, “VINČA” Institute of Nuclear Sciences-National Institute of the Republic of Serbia, University of Belgrade, Belgrade, Serbia
Nina Petrović
Department for Experimental Oncology, Institute for Oncology and Radiology of Serbia, Belgrade, Serbia
Nina Petrović
Department of Bioscience and Biotechnology, Banasthali University, Vanasthali, Rajasthan, India
Begum Dariya

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Department of Biotechnology, Guru Ghasidas Vishwavidyalaya, Bilaspur, Chhattisgarh, India
Dhananjay Shukla
Department of Biotechnology, Guru Ghasidas Vishwavidyalaya, Bilaspur, Chhattisgarh, India
Naveen Kumar Vishvakarma
Division of Hematology and Oncology, School of Medicine, University of Alabama, Birmingham, AL, USA
Ganji Purnachandra Nagaraju

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Nakashidze, I., Petrović, N., Kedelidze, N., Dariya, B. (2022). Clinical Significance of Genetic Variants in Colon Cancer. In: Shukla, D., Vishvakarma, N.K., Nagaraju, G.P. (eds) Colon Cancer Diagnosis and Therapy Vol. 3. Springer, Cham. https://doi.org/10.1007/978-3-030-72702-4_4

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Published: 14 February 2022
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