Abstract
Colorectal cancer (CRC) is one of the major solid tissue malignancies affecting the worldwide population. CRC is the third most common cancer and fourth among the major contributors of cancer-related mortality worldwide. CRC incidence rate exhibits a considerable variation with geographical location and with race and ethnicity. The variation in CRC incidence with geographical location is so conspicuous that CRC is regarded as the marker of the socioeconomic development of nations. The role played by the genetic variants especially SNPs in modulating the risk of CRC is of very diverse nature. In this chapter, we would be discussing the effects of SNPs in the low penetrance genes depending upon the type of pathways these genes are involved in. Numerous pathways, which are known to get affected by genetic variations, can be categorized as: cell cycle regulatory, transcription regulatory, DNA repair, folate metabolism, fat metabolism, xenobiotic and inflammatory pathways.
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Abbreviations
- 5,10-MTHFR:
-
5,10-Methylenetetrahydrofolate reductase
- 5-MTHF:
-
5-methyltetrahydrofolate
- ACE:
-
Angiotensin-converting enzyme
- ADT:
-
Androgen deprivation therapy
- AJCC:
-
American Joint Committee on Cancer
- APC:
-
Adenomatous polyposis coli
- APS:
-
Adenomatous polyposis syndromes
- ASR:
-
Age standardized rate
- ASRi:
-
ASR incidence rates
- ASRm:
-
ASR mortality rate
- AURKA:
-
Aurora A kinase
- B12:
-
Vitamin B12
- B2:
-
Vitamin B2
- B6:
-
Vitamin B6
- BER:
-
Base excision repair
- C1-THF:
-
C-1-tetrahydrofolate
- CBS:
-
Cystathionine β-synthase
- CCND1:
-
Cyclin D1
- CD:
-
Crohn’s disease
- CIMP:
-
CpG island methylator phenotype
- CIN:
-
Chromosomal instability
- CNVs:
-
Copy number variations
- CRC:
-
Colorectal cancer
- CS:
-
Colonoscopy
- CT:
-
Computed tomographic
- CTH:
-
Cystathionine γ-lyase
- DCBE:
-
Double contrast barium enema
- DCC:
-
Deleted in Colorectal Cancer
- DHF:
-
Dihydrofolate
- DHFR:
-
Dihydrofolate reductase
- DHT:
-
dDihydrotestosterone
- DSBR:
-
Double-strand break repair
- dTMP:
-
Deoxythymidine monophosphate
- dUMP:
-
Deoxyuridine monophosphate
- FAP:
-
Familial adenomatous polyposis
- FOBT:
-
Fecal occult blood testing
- Formyl THF:
-
Formyl tetrahydrofolate
- FS:
-
Flexible sigmoidoscopy
- GIT:
-
Gastrointestinal tract
- GnRH:
-
Gonadotropin-releasing hormone
- GWAS:
-
Genome-wide association study
- HDI:
-
Human development index
- HIC-1:
-
hypermethylated-in-cancer 1
- HNPCC:
-
Hereditary non-polyposis colorectal cancer
- HOGG1:
-
Human 8-oxoguanine DNA glycosylase 1
- HPCC:
-
Hereditary polyposis colorectal cancer
- HPS:
-
Hamartomatous polyposis syndromes
- HR:
-
Homologous recombination
- IBD:
-
Inflammatory bowel disease
- IGF-2:
-
Insulin-like growth factor 2
- Indels:
-
Insertions or deletions
- MGMT:
-
Methylguanine methyltransferase
- MMR:
-
Mismatch repair
- MSI:
-
Microsatellite instability
- MTHFR:
-
Methylenetetrahydrofolate reductase
- MTR:
-
Methionine synthase
- MTRR:
-
Methionine synthase reductase
- NER:
-
Nucleotide excision repair
- NGS:
-
Next-generation sequencing
- NSAIDs:
-
Non-steroidal anti-inflammatory drugs
- Plk:
-
Polo-like kinases
- PPARG:
-
Peroxisome proliferator-activated receptor gamma
- RXR:
-
Retinoid X receptor
- SAM:
-
S-adenosyl methionine
- SHMT1:
-
Serine hydroxymethyl transferase 1
- SNP:
-
Single nucleotide polymorphism
- SNPs:
-
Single nucleotide polymorphisms
- SSRs:
-
simple sequence repeats
- THF:
-
Tetrahydrofolate
- TP53:
-
Tumor protein p53
- TS:
-
Thymidylate synthase
- UC:
-
Ulcerative colitis
- VC:
-
Virtual colonoscopy
- VDR:
-
Vitamin D receptor
- XPD:
-
Xeroderma pigmentosum complementary D
- XRCC:
-
X-ray repair cross complementing
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Banday, M.Z., Sameer, A.S., Nissar, S. (2021). Colorectal Cancer and Genetic Polymorphism in Key Regulatory Low Penetrance Genes. In: Sameer, A.S., Banday, M.Z., Nissar, S. (eds) Genetic Polymorphism and cancer susceptibility. Springer, Singapore. https://doi.org/10.1007/978-981-33-6699-2_5
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