Genetic variants of epidermal growth factor receptor (EGFR) and their association with colorectal cancer risk in North Indian population

Uroog, Laraib; Bhat, Zafar Iqbal; Imtiyaz, Khalid; Zeya, Bushra; Wani, Rauf Ahmad; Rizvi, M. Moshahid Alam

doi:10.1016/j.genrep.2020.100681

Cited by 6 publications

(5 citation statements)

References 16 publications

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“…This observation entails the absence of any possible link with the progression of NSCLC in the investigated population. Despite the recent implication of the rs2227984 SNP in various malignancies in Iranian and North Indian populations [38,39], this study indicated no possible participation of this SNP with NSCLC in the studied Iraqi population. Meanwhile, both polymorphic rs1050171 and rs2227983 SNPs exhibited a noticeable correlation with NSCLC in the study population.…”

Section: Discussioncontrasting

confidence: 77%

Two missense variants of the epidermal growth factor receptor gene are associated with non small cell lung carcinoma in the Iraqi population

Lawi

Al-Shuhaib

Amara

et al. 2022

Preprint

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Background Lung carcinoma is a foremost cause of cancer-related mortality worldwide. Variable genetic factors are associated with the development of lung malignancy. This study was performed to evaluate the possible association between epidermal growth factor receptor (EGFR) gene polymorphisms and non small cell lung carcinoma (NSCLC) in Iraqi population. Methods DNA samples were extracted from 100 patients and 100 controls. Four PCR fragments were designed to amplify four high-frequency variants within EGFR, namely rs1050171, rs2072454, rs2227984, and rs2227983. The PCR fragments were genotyped by single-strand conformation polymorphism (SSCP) method, and each genotype was exposed to direct sequencing. Results Genotyping experiments confirmed the variability of three targeted variants, and logistic regression analysis showed that two of these variants (rs1050171 and rs2227983) exhibited a significant association with NSCLC. Individuals with rs1050171:GA genotype showed a significant association with the increased risk of NSCLC (P=0.0110; OD 5.2636; Cl95% 1.4630 to 18.9371). Individuals with rs2227983:GG genotype exhibited a highly significant association with NSCLC (P=0.0037; OD 5.2683; Cl95% 1.7141 to 16.1919). Linkage disequilibrium analysis showed that the effects of the investigated variants are independent of each other. Conclusions Our collective data indicated that EGFR-rs1050171G/A and EGFR-rs2227983G/G SNPs exerted significant and independent association with the increased risk of NSCLC. This study suggests employing both rs1050171 and rs2227983 SNPs as informative diagnostic markers for the early detection of NSCLC in the study population.

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Section: Discussioncontrasting

confidence: 77%

Two missense variants of the epidermal growth factor receptor gene are associated with non small cell lung carcinoma in the Iraqi population

Lawi

Al-Shuhaib

Amara

et al. 2022

Preprint

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“…Sample Collection, DNA Isolation, and Genotyping of SNP Blood samples were collected in ethylenediaminetetraacetic acid (EDTA)-coated vials. Human genomic DNA was extracted as per laboratory protocol from control and case subjects using phenol-chloroform method [30]. DNA was separated from 500 μL of blood with the use of SDS/proteinase K. An equivalent volume of phenol chloroform isoamyl-alcohol (in the ratio 25:24:1) was used, followed by ethanol precipitation.…”

Section: Methodsmentioning

confidence: 99%

Genetic Profile of FOXO3 Single-Nucleotide Polymorphism in Colorectal Cancer Patients

Uroog,

Rahmani,

Alsahli

et al. 2023

Oncology

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Introduction: Colorectal cancer (CRC) heritability is determined by the composite relations between inherited variants and environmental factors. In developing countries like India, the incidence rates of CRC are especially increasing. In this study, we have focused on the distribution of the FOXO3 gene polymorphisms among the patients with colorectal cancer in North India. Methods: A case–control study was conducted on 487 colorectal cancer patients and 487 age-matched controls. We genotyped SNPs rs2253310 and rs4946936 through PCR-Restriction fragment length polymorphism (RFLP) analysis and PCR-single stranded conformation polymorphism (SSCP) procedure followed by sequence detection. Results: A significantly increased risk of CRC was observed for the CC genotype of the rs4946936 polymorphism compared to the TT genotype (p= 0.02; OR= 1.40 CI=1.05-1.87). GT haplotype appeared to be a “risk” haplotype (OR- 1.71, 95%CI= 0.82~2.19), while as other haplotypes CC (OR- 0.83, 95% CI=0.32~1.54]), CT (OR- 0.75, 95%CI= 0.25~1.01) and GC (OR- 0.98, 95%CI= 0.88~1.14) were found to be “protective” for developing colorectal cancer. Conclusion: This study suggests an association of increased risk of CRC with the rs4946936 polymorphism, but not with the rs2253310 polymorphism.

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“…In HER1 single nucleotide variation occurs at 497 codons in which the substitution of Arg (R) to Lys (K) occurs in the extracellular domain and is called R497K polymorphism (rs11543848). However, this mutation is detected in breast cancer as well as gliomas, colorectal and lung cancer 10,11 …”

Section: Introductionmentioning

confidence: 99%

“…However, this mutation is detected in breast cancer as well as gliomas, colorectal and lung cancer. 10,11 HER2 is a proto-oncogene also known as neu-oncogene which consists of 1255 amino acids and transmembrane glycoprotein (185 KD) that is located on the long arm of the chromosome 17 (17q12). HER2 or ErbB2 is a member of EGFR that regulates the growth and differentiation of cells through several downstream pathways.…”

Section: Introductionmentioning

confidence: 99%

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Human epidermal growth receptor polymorphisms (HER1–rs11543848 and HER2–rs1136201) exhibited significant association with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan

Sombal,

Khan,

Khan

et al. 2024

Health Science Reports

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Background and AimsBreast cancer is the most common type of cancer in women. The genetic polymorphism in HER (HER1–rs11543848 and HER2–rs1136201) were found to be associated with breast cancer risk in different ethnicities worldwide with inconsistent results. The aim of this research study was to evaluate the association of HER1–rs11543848 and HER2–rs1136201 polymorphisms as a risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan.MethodsA total of 314 women including 164 breast cancer patients and 150 age and gender‐matched healthy controls were enrolled from June 2021 to May 2022. All the samples were subjected to DNA extraction followed by Tetra‐ARMS‐PCR for genotyping and gel electrophoresis.ResultsOur results indicated that HER1–rs11543848 risk allele A (p = 0.0001) and heterozygous genotype GA (p = 0.0001) displayed highly significant association with breast cancer, while the homozygous mutant genotype AA indicated association but nonsignificant results (odds ratio [OR] = 2.637, 95% confidence interval [CI] = 1.2258–5.6756, p = 0.0833). Similarly, the HER2–rs1136201 risk allele G (p = 0.0023), the heterozygous genotype AG (p = 0.0530) and homozygous mutant genotype GG showed significant association (OR = 2.5946, 95% CI = 0.9876–6.8165, p = 0.0530) with breast cancer risk. Both the SNPs presented a higher but nonsignificant risk of breast cancer in postmenopausal women (OR = 2.242, p = 0.08 and OR = 2.009, p = 0.06). However, both the SNPs showed significant association (p < 0.005) with family history, metastasis, stage, luminal B, and TNBC.ConclusionIn conclusion, HER1–rs11543848 and HER2–rs1136201 polymorphisms are significantly associated with the higher risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan. These findings advocate for further exploration with larger datasets, offering promising avenues for personalized approaches in breast cancer research and potentially enhancing clinical practices for better risk assessment and targeted management strategies.

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Genetic variants of epidermal growth factor receptor (EGFR) and their association with colorectal cancer risk in North Indian population

Cited by 6 publications

References 16 publications

Two missense variants of the epidermal growth factor receptor gene are associated with non small cell lung carcinoma in the Iraqi population

Two missense variants of the epidermal growth factor receptor gene are associated with non small cell lung carcinoma in the Iraqi population

Genetic Profile of FOXO3 Single-Nucleotide Polymorphism in Colorectal Cancer Patients

Human epidermal growth receptor polymorphisms (HER1–rs11543848 and HER2–rs1136201) exhibited significant association with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan

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