15172 Identification of germline mutations affecting the incidence and prognosis of high-risk cutaneous squamous cell carcinoma: A pilot study

Lobl, Marissa; Higgins, Shauna; Hass, Blake; Clarey, Dillon; Campan, Mihaela; Ward, Pamela; Wysong, Ashley

doi:10.1016/j.jaad.2020.06.210

Cited by 2 publications

(1 citation statement)

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“…This association may be elucidated by the existence of a possible role of these SNPs in the onset and development of the NSCLC. These EGFR SNPs were previously reported to be associated with the development of various types of cancer, such as colorectal cancer [40], breast cancer [41], and squamous cell carcinoma [42,43]. However, each SNP exerts a speci c effect on the onset and progression of NSCLC since the heterozygous rs1050171:GA genotype and homozygous genotype rs2227983:GG showed a remarkable tendency to be localized in patients with NSCLC than those with the other two genotypes in each polymorphic locus.…”

Section: Discussionmentioning

confidence: 99%

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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