Gene Variants, MRNA Expression, and Bioinformatics Insights in Mexican Cutaneous Squamous Cell Carcinoma Patients

Overview

Journal Biology (Basel)

Publisher MDPI

Specialty Biology

Date 2024 Mar 27

PMID 38534460

Authors

Marianela Zambrano-Roman

Jorge R Padilla-Gutierrez

Yeminia Valle

Jose Francisco Munoz-Valle

Elizabeth Guevara-Gutierrez

Patricia Aide Lopez-Olmos

Laura Cristina Sepulveda-Loza

Luis Alberto Bautista-Herrera

Emmanuel Valdes-Alvarado

Affiliations

Soon will be listed here.

Abstract

Background: Skin cancer is one of the most frequent types of cancer, and cutaneous squamous cell carcinoma (cSCC) constitutes 20% of non-melanoma skin cancer (NMSC) cases. , a tumor suppressor gene involved in the Sonic hedgehog signaling pathway, plays a crucial role in neoplastic processes.

Methods: An analytical cross-sectional study, encompassing 211 cSCC patients and 290 individuals in a control group (CG), was performed. A subgroup of samples was considered for the relative expression analysis, and the results were obtained using quantitative real-time PCR (qPCR) with TaqMan probes. The functional, splicing, and disease-causing effects of the proposed variants were explored via bioinformatics.

Results: cSCC was predominant in men, especially in sun-exposed areas such as the head and neck. No statistically significant differences were found regarding the rs357564, rs2236405, rs2297086, and rs41313327 variants of , or in the risk of cSCC, nor in the mRNA expression between the cSCC group and CG. A functional effect of rs357564 and a disease-causing relation to rs41313327 was identified.

Conclusion: The proposed variants were not associated with cSCC risk in this Mexican population, but we recognize the need for analyzing larger population groups to elucidate the disease-causing role of rare variants.

Citing Articles

A Case of Squamous Cell Carcinoma Arising in Disseminated Superficial Porokeratosis.

Zheng H, Wang Y, Wu S, Zhu M Clin Cosmet Investig Dermatol. 2024; 17:1259-1263.

PMID: 38827628 PMC: 11144422. DOI: 10.2147/CCID.S463569.

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