L.N.R. Alves

Publications of : L.N.R. Alves

Human Genetics Research Article

Steroid metabolism gene polymorphisms and their implications on breast and ovarian cancer prognosis

A role for estrogen in the etiology of breast and ovarian cancers has been suggested; therefore, genetic polymorphisms in steroid metabolism genes could be involved in the carcinogenesis of these tumors. We have aimed to investigate the role of GSTP1 and CYP17 polymorphisms and their correlation with MSI (microsatellite instability) and LOH (loss of heterozygosity) .. Read More»

Genet. Mol. Res. 16(3): gmr16039691

DOI: 10.4238/gmr16039691

Human Genetics Research Article

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil

L.N.R. Alves, E.V.W. Santos, E. Stur, A.M.A. Silva Conforti and I.D. Louro

Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the dise.. Read More»

Genet. Mol. Res. 15(2): gmr.15028189

DOI: 10.4238/gmr.15028189

Human Genetics Research Article

ΔF508 mutation screening of healthy individuals from two populations in Espírito Santo State, Brazil

A.M. Lanes, L.S. Louro, D.P. Ventorim, E. Stur, F.M. Garcia, L.P. Agostini, L.N.R. Alves, R.S. Reis, I.D. Louro and R.S. Dettogni

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a st.. Read More»

Genet. Mol. Res. 15(4): gmr15049387

DOI: 10.4238/gmr15049387