Research on increased risk of skin cancer wins award

Research Polymorphisms in genes ERP29 and LEF1 associated with risk of cutaneous melanoma developed in the Laboratory of Cancer Genetics (LAGECA), Faculty of Medical Sciences (FCM), State University of Campinas (Unicamp) was awarded first place at the 10th Conference Brazilian on Melanoma, held in August in Belo Horizonte (MG).

The work suggested, first, that these genes alter the risk of developing this type of skin cancer, especially the more advanced tumor. The survey was conducted by a biologist, a doctoral student in medical pathophysiology, Cristiane Oliveira. The orientation is the medical Carmen Silvia Passos Lima. The study was conducted from a sample of 179 patients treated at the Hospital de Clinicas (HC) of Unicamp with cutaneous melanoma and 199 healthy donors of blood from the Blood Center of Unicamp.

The gene polymorphisms define the physical characteristics of individuals and can act in different ways in the metabolism of drugs in blood vessel formation and repair of DNA damage, for example. Consequently, individuals inherit their parents, not only information determining the color of the eyes, as well as predisposition to the development of certain types of diseases, such as cancer. The study gives an indication that predisposition to cutaneous melanoma, which consists of an aggressive tumor because of its potential metastatic (spreading) and high resistance to treatment, explained Professor Carmen Silvia Passos Lima.

According Cristiane Oliveira, PhD in medical pathophysiology, the result showed significant because ERP29 identified polymorphisms in a candidate tumor suppressor - to combat the development of tumor and other LEF1 two polymorphisms in the gene involved in transcription of DNA responsible for the process transmission of hereditary characteristics. We do not know how these polymorphisms are altering the proteins synthesized. This is the next step that is underway in our laboratory, explained.

This is the first study to assess the influence of gene polymorphisms ERP29 c.293A> G gene LEF1 c.1213 +480 C> T and g.127267C> T in the risk of cutaneous melanoma. Identification of polymorphic genes associated with melanoma may help to identify groups of individuals at high risk for the disease, which deserve to receive additional recommendations to prevent illness or even segments of routine dermatologists to diagnose early.

Researchers have identified previously by means of the technique of genotyping a large scale, ten polymorphisms in genes with important roles in the formation of tumors of the head and neck. And, two polymorphisms in genes ERP29 and LEF1 have investigated their roles in cutaneous melanoma in the current study.

Increased frequency of specific genotypes of AA and LEF1 genes ERP29 TT and TT were identified in patients with cutaneous melanoma compared with healthy subjects. Individuals with these risk genotypes showed about three times more likely to develop cancer compared to patients with other genotypes. Genotype-specific gene ERP29 AA was found in patients with more advanced tumor than in those with localized tumors, or even in healthy people, and individuals with this type of risk genotype had about five times more likely to develop a tumor at its advanced than those with other genotypes.

To know precisely what are the roles of these gene polymorphisms in inherited risk of cutaneous melanoma in the Brazilian context, Carmen said that you need to gather samples of individuals from different regions of the country, since the frequencies of the different genotypes of the polymorphisms also vary in individuals different ethnicities. After performing the studies developed in Brazil, we will compare them with results obtained in other countries to know how these genes behave in the disease worldwide, said the supervisor.

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