Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma

Abstract

The developed approach proved robust, suggesting that it might be useful for the personalized genotyping of large cohorts of patients.

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil

“…In determining complex human traits in general, common genetic variants tend to have small effect sizes individually, but together. They may reveal important information and contribute to the assessment of individual risk for complex diseases such as cancer [ 47 ]. The development and evaluation of predictive models that combine environmental and genomic risk factors can help improve melanoma prevention and population screening by motivating risk reduction behaviors, especially in regions with high incidence rates.…”

HERC Ubiquitin Ligases in Cancer

“…Pheochromocytoma and paraganglioma HERC2 mutations [19] T-cell prolymphocytic leukemia HERC2 mutations [13] Cutaneous melanoma SNPs in HERC2 gene increase susceptibility [20][21][22][23] Gene-gene interactions between HERC2 gene and IL31RA and DDX4 genes [24] Epistatic effects between HERC2 and VDR genes [25] Cutaneous squamous cell carcinoma SNPs in HERC2 gene impact on time to develop the tumor in organ transplant recipients [26] Uveal melanoma SNPs in HERC2 gene increase susceptibility [27] Non-small-cell lung cancer Worse prognosis in patients expressing high HERC2 mRNA levels [28] Breast cancer Enhanced BRCA1 degradation [29,30] Gastric and colorectal carcinomas HERC2 mutations [31] Osteosarcoma Negative correlation of SOX18 overexpression and HERC2 mRNA levels [18] HERC3 Glioblastoma Degradation of SMAD7 and activation of the TGFβ signaling [32] Gastric and colorectal carcinomas HERC3 mutations [31] Osteosarcoma Negative correlation of SOX18 overexpression and HERC3 mRNA levels [18] HERC4…”

Diversidade genética das regiões regulatórias e codificantes dos genes SLC45A2 e TYR em amostra da população brasileira

“…Em uma pesquisa sobre predição de cores de cabelos, o alelo C do SNP rs28777 se mostrou associado a cabelos pretos [OR = 7,05 (2,3)] em poloneses (Branicki, Liu et al 2011) (Simeonov, Wang et al 2013, Wei, Zang et al 2015, Toth, Fabos et al 2017 ou predisposição ao melanoma (Fesenko, Chudinov et al 2016, Park, Talukder et al 2017, sendo útil até mesmo no diagnóstico pré-natal, quanto nas descobertas de mutações relacionadas à variação normal e predição da pigmentação humana (Beleza, Johnson et al 2013, Liu, Visser et al 2015, Siewierska-Gorska, Sitek et al 2017).…”