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Colorectal Cancer and Genetic

Polymorphism in Key Regulatory Low

Penetrance Genes

Mujeeb Zafar Banday, Aga Syed Sameer, and Saniya Nissar

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 inci-

dence 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 devel-

opment 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 metabo-

lism, xenobiotic and inﬂammatory pathways.

Keywords

Colorectal cancer · Mutations · Polymorphism · Genetics · Risk factors · DNA

repair · Susceptibility

M. Z. Banday · S. Nissar

Department of Biochemistry, Government Medical College, Srinagar, Kashmir, India

A. S. Sameer (*)

Basic Medical Sciences, College of Medicine, King Saud bin Abdulaziz University for Health

Sciences (KSAU-HS), Jeddah, Saudi Arabia

King Abdullah International Medical Research Centre (KAIMRC), National Guard Health Affairs

(NGHA), Jeddah, Saudi Arabia

e-mail: agas@ksau-hs.edu.sa

The Author(s), under exclusive license to Springer Nature Singapore Pte

Ltd. 2021

A. S. Sameer et al. (eds.), Genetic Polymorphism and Cancer Susceptibility,

https://doi.org/10.1007/978-981-33-6699-2_5

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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

120 M. Z. Banday et al.

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HIC-1 hyperm ethylated-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 Nucl eotide 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

5.1 Introduction

Colorectal cancer (CRC) encompasses the cancers of colon, rectum, and appendix.

CRC affects both the genders considerably, is one of the most common cancers

worldwide, and represents nearly 10% of all the cancer cases diagnosed and cancer-

related deaths reported, annually (Dekker et al. 2019; Kuipers et al. 2015).

5 Colorectal Cancer and Genetic Polymorphism in Key Regulatory Low... 121

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5.1.1 Epidemiology

5.1.1.1 Etiology

The emergence of colorectal tumors is multifarious and varies from benign growths

to belligerently invasive tumors. As with origin, presentation is also varied and

ranges from non-neoplastic polyps to neoplastic polyps (adenomatous polyps,

adenomas) or to full-blown cancers. Most of the colorectal tumors (almost 95%)

are adenomas (benign form) or adenocarcinomas (malignant form), which originate

from epithelium derived intestinal glands. Colorectal tumors may also arise as

carcinoid tumors, whi ch are derived from gastr ointestinal neuroendocrine cells,

mostly in the small intestine and appendix and only occasionally in the rectum.

The other colorectal tumor types include gastrointestinal stromal tumors, which

originate from gastrointestinal tract (GIT) resident interstitial cell of Cajal (ICC)

and lymphomas, which are predominantly derived from lymphatic syst em but may

rarely arise or develop in the colon and rectum as colorectal lymphomas (O’Brien

et al. 2004; Zauber et al. 2002).

Colorectal tumors are multifarious in their etiology also and may be sporadic,

inherited, or familial in their origin and occurrence (Fig. 5.1). Sporadic CRC, as the

name indicates, occurs randomly without any manifestation of being or having an

association with an inherited disorder. Sporadic CRC results from somatic (point)

gene mutations that arise due to or are associated with normal aging, exposure to

environmental factors and lifestyle including dietary habits, acting alone or in a

cumulative manner (Dekker et al. 2019; Sameer 2013a). Multiple and diverse genes

may be targeted by these mutations, which forms the basis of complex heteroge-

neous nature of this disease especially with regard to molecular pathogenesis.

However, in most cases of sporadic CRC, about 70%, a speciﬁc set of genes undergo

mutations in a speciﬁc progression and manifest initially as benign to precancerous

morphological changes, which gradually develop into cancer. The mutations

Fig. 5.1 Etiological types of CRC and penetrance pattern of genes involved

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responsible for sporadic CRC may arise in low penetrance genes or may be

low-penetrance mutated variants of high-penetrance genes. Sporadic CRC

represents 70–75% of all the cases of colorectal cancer and usually occurs in

individuals aged more than 50 years (Mármol et al. 2017).

Inherited (hereditary) CRC represents such cases of colorectal cancer, which arise

from or are associated with speciﬁc inherited disorders, which have well-deﬁned

predisposition to CRC. These inherited disorders are usually associated with

inherited (germline) high-penetrance gene mutations in one of the two alleles of

the targeted gene and contribute to CRC predisposition through creation of a

scenario where somatic (point) mutations in the other allele of the targeted (mutated)

gene may trigger morphological changes, which may gradually manifest as colorec-

tal tumor. Further, these inherited disorders present clinically with either preponder-

ant polyposis (colonic polyps present) or preponderant non-polyposis (colonic

polyps absent) and colorectal cancers resulting from these disorders are known as

hereditary polyposis colorectal cancer (HPCC) and hereditary non-polyposis colo-

rectal cancer (HNPCC), respectively. About 5–10% of all the cases of CRC are

inherited colorectal tumors (Calvert and Frucht 2002; Power et al. 2010;Mármol

et al. 2017). The inherited disorders associated with CRC are of very rare occurrence

but exhibit a diverse clinico-pathological presentation, which allows an extensive

mechanistic understanding of almost all colorectal cancer types.

Hereditary polyposis disorders, which may result in hereditary polyposis colo-

rectal cancer (HPCC) can be grouped into two main types—adenomatous polyposis

syndromes (APS) and hamartomatous polyposis syndromes (HPS). Adenomatous

polyposis syndromes (APS) include familial adenomatous polyposis (FAP), Gardner

syndrome, Turcot syndrome type II, and attenuated forms of familial adenomatous

polyposis (Buecher 2016). Hamartomatous polyposis syndromes (HPS) include

familial juvenile polyposis syndrome or juvenile polyposis syndrome (FJPS/JPS),

PTEN hamartoma tumor syndro mes [Bannayan-Riley-Ruvalcaba syndrome

(BRRS), Cowden syndrome (CS), and Proteus Syndrome (PS)], Peutz-Jeghers

Syndrome (PJS), and hereditary mixed polyposis syndrome (HMPS, a variant

form of JPS characterized by the presence of both adenomatous and hamartomatous

polyps) (Daniel and Howe 2008; Jelsig et al. 2014). Hereditary polyposis colorectal

cancer (HPCC) represents 3–5% of all cases of colorectal cancer.

Hereditary non-polyposis disorders, which may result in hereditary

non-polyposis colorectal cancer (HNPCC) include Lynch syndrome, Muir-Torre

syndrome (MTS), and Turcot syndrome type I. Lynch syndrome is the most com-

mon cause of HNPCC with 2–4% of all CRC cases attributed to it and hence is often

synonymously used with this type of colorectal cancer. HNPCC represents 1.7–4.2%

of all cases of colorectal cancer (Carethers and Stoffel 2015; Lee et al. 2017).

Familial CRC represents a heterogeneous group of colorectal cancers with largely

unknown molecular etiology and affects individuals with a family history of CRC

but without any apparent association with speciﬁc inherited disorders. Familial

incidence of CRC in such cases is too high to be classiﬁed as sporadic CRC and

as it does not follow Mendelian or any other speciﬁc genetic pattern of inheritance, it

cannot be classiﬁed as inherited CRC either. Familial CRC possibly results from

5 Colorectal Cancer and Genetic Polymorphism in Key Regulatory Low... 123

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mutations in predisposition genes or may arise from exposures to common environ-

mental factors among the members of a family or both genetic and environmental

factors may act in combination. The predisposition genes, which undergo mutations

in familial CRC, may be lowly penetrant, moderatel y penetrant, or highly penetrant.

Familial CRC represents 20–25% of all the cases of colorectal cancer (Calvert and

Frucht 2002; Power et al. 2010; Armelao and de Pretis 2014; Stoffel and Kastrinos

2014).

5.1.1.2 Incidence, Mortality and Changing Trends

CRC ranks third amongst the most common cancers, after cancers of lung and breast

and fourth among the major contributors of cancer-related mortality, with about

900,000 deaths per year (Dekker et al. 2019; Bray et al. 2018; Ferlay et al. 2018a).

CRC ranks second amongst the most common cancers in women (~9.5% of all cases

of cancer) with breast cancer being the foremost common. It ranks third amongst the

most common cancers in men (`10.9% of all cases of cancer) with lung cancer being

the foremost common and prostate cancer being the second most common (Ferlay

et al. 2018b; Torre et al. 2017).

With regard to CRC incidence and CRC related mortality, 1.8 million new cases

of colorectal cancer (1,096,000 colon cancer cases and 704,000 rectal cancer cases)

and 881,000 deaths were reported worldwide in the year 2018. These numbers are

expected to increase to 2.5 million new CRC cases and 1.1 million deaths by the year

2035 (Dekker et al. 2019; Ferlay et al. 2018a). CRC incidence and CRC related

mortality in females is almost 25% lower than in males (Dekker et al. 2019). CRC

incidence expressed in terms of age-standardized (world) [ASR (world)] incidence

rates per 100,000 of population has been reported to be 23.6 for males and 16.3 for

females. Overall ASR (world) incidence and mortality rates per 100,000 of popula-

tion have been reported to be 19.7 and 8.9, respectively (Ferlay et al. 2018b).

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. CRC incidence in developed nations has been reported to be

3–4 times more in comparison with developing nations and variations in incidence

up to 8 times for colon cancer and 6 times for rectal cancer have been reported across

different regions globally. Many countries where signiﬁcant developmental progress

is taking place, as evident from increasing human development index (HDI), a

uniform increase in CRC incidence rates have been observed. The increase in

CRC incidence rates with increasing HDI has been attributed to increased life span

and change in environmental factors including such lifestyle and dietary habits,

which have been associated with increased risk of CRC (Arnold et al. 2017). ASR

(world) incidence rates per 100,000 of population for males and females in countries

with high-HDI are 30.1 and 20.9, respectively, and for males and females in

countries with low-HDI, these values are 8.4 and 5.9, respectively (Ferlay

et al. 2018b, Bray et al. 2018). CRC related mortality in developed nations has

been reported to be 2–3 times more in comparison with developing nations. ASR

mortality rate (ASRm) per 100,000 of population for males and females in countries

124 M. Z. Banday et al.

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