Hereditary disease

The investigation of DNA repair polymorphisms with histopathological characteristics and hormone receptors in a group of Brazilian women with breast cancer

R. M. Dufloth, Arruda, A., Heinrich, J. K. R., Schmitt, F., and Zeferino, L. C., The investigation of DNA repair polymorphisms with histopathological characteristics and hormone receptors in a group of Brazilian women with breast cancer, vol. 7, pp. 574-582, 2008.

The association of tumor differentiation and estrogen receptor expression with the prognosis of breast cancer has been well established. Nevertheless, little is yet reported about the association of morphological characteristics of the tumor, estrogen receptor status and polymorphisms in low penetrance genes. The aim of the present study was to investigate a possible association between DNA repair gene polymorphisms (XRCC1, XPD, XRCC3, and RAD51) with histological type, grade and hormone receptor expression in a series of breast cancers.

A low prevalence of cystic fibrosis in Uruguayans of mainly European descent

H. Cardoso, Crispino, B., Mimbacass, A., and Cardoso, M. Enrique, A low prevalence of cystic fibrosis in Uruguayans of mainly European descent, vol. 3, pp. 258-263, 2004.

Cystic fibrosis is the most common hereditary disease in populations of European descent, with its prevalence depending on the populations and ethnic groups studied. In contrast to Europe and North America, there is little information about this disease in Latin America. Uruguay currently has a human population of 3,000,000, with a low rate of miscegenation and no remaining isolated Amerindian groups.

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