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Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population.

ABSTRACT: Ultraviolet light exposure and cutaneous pigmentation are important host risk factors for cutaneous melanoma (CM), and it is well known that inherited ability to produce melanin varies in humans. The study aimed to identify single-nucleotide variants (SNVs) on pigmentation-related genes with importance in risk and clinicopathological aspects of CM. The study was conducted in two stages. In stage 1, 103 CM patients and 103 controls were analyzed using Genome-Wide Human SNV Arrays in order to identify SNVs in pigmentation-related genes, and the most important SNVs were selected for data validation in stage 2 by real-time polymerase-chain reaction in 247 CM patients and 280 controls. ADCY3 c.675+9196T>G, CREB1 c.303+373G>A, and MITF c.938-325G>A were selected for data validation among 74 SNVs. Individuals with CREB1 GA or AA genotype and allele "A" were under 1.79 and 1.47-fold increased risks of CM than others, respectively. Excesses of CREB1 AA and MITF AA genotype were seen in patients with tumors at Clark levels III to V (27.8% versus 13.7%) and at III or IV stages (46.1% versus 24.9%) compared to others, respectively. When compared to others, patients with ADCY3 TT had 1.89 more chances of presenting CM progression, and those with MITF GA or AA had 2.20 more chances of evolving to death by CM. Our data provide, for the first time, preliminary evidence that inherited abnormalities in ADCY3, CREB1, and MITF pigmentation-related genes, not only can increase the risk to CM, but also influence CM patients' clinicopathological features.

SUBMITTER: Lourenco GJ

PROVIDER: S-EPMC7376158 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population.

Lourenço Gustavo Jacob GJ Oliveira Cristiane C Carvalho Benilton Sá BS Torricelli Caroline C Silva Janet Keller JK Gomez Gabriela Vilas Bôas GVB Rinck-Junior José Augusto JA Oliveira Wesley Lima WL Vazquez Vinicius Lima VL Serrano Sergio Vicente SV Moraes Aparecida Machado AM Lima Carmen Silvia Passos CSP

Scientific reports 20200722 1

Ultraviolet light exposure and cutaneous pigmentation are important host risk factors for cutaneous melanoma (CM), and it is well known that inherited ability to produce melanin varies in humans. The study aimed to identify single-nucleotide variants (SNVs) on pigmentation-related genes with importance in risk and clinicopathological aspects of CM. The study was conducted in two stages. In stage 1, 103 CM patients and 103 controls were analyzed using Genome-Wide Human SNV Arrays in order to iden ...[more]

PMID: 32699307

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Project description:BackgroundThe landscape of cutaneous melanoma (CM) diagnosis, staging, prognosis, and treatment has undergone fundamental changes in the past decade. While the benefits of new health resources are recognized, there is a distinct lack of accurate cost-of-illness information to aid healthcare decision makers.MethodsThe cost-of-illness study for CM was conducted from the perspective of two health systems in Brazil: the public health system (Unified Health System, SUS) and the private health system (Health Management Organization, HMO). The study considered the direct medical cost in a bottom-up analysis, using melanoma incidence, knowledge of the disease's progression, and the overall survival rates. The executional costs for the complete healthcare delivery cycle were investigated considering different disease stages and possible clinical course variations. The structural cost was assessed qualitatively considering the health value chain in Brazil.ResultsCM represents a critical financial burden in Brazil, and the cost of illness varied according to the health system and by stage at diagnosis. HMO patient costs are approximately 10-fold and 90-fold more than a SUS patient in the early-stage and advanced disease, respectively. Overall, spending on advanced disease patients can be up to 34-fold (SUS) or 270-fold (HMO) higher than that required for the early-stage disease. Given the massive amount of resources spent by the SUS and HMO, significant efforts must be made to improve the health value chain to deliver the right mix of medical care goods and services using available resources.ConclusionThe cost-of-illness study for CM has the potential to inform policymakers and decision-makers regarding the economic burden that melanoma impose on a society in terms of the use of health care services, assisting them in making projections of future health care costs and resource allocation decisions. We believe that cost-of-illness analysis from a strategic perspective could be of help in assessing executional costs and be used to support the change in structural costs required for long-term strategies related to the health value chain.

Dataset Information

Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population.

Publications

Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population.

Similar Datasets

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