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| Jara,Lilian; Morales,Sebastian; Mayo,Tomas de; Gonzalez–Hormazabal,Patricio; Carrasco,Valentina; Godoy,Raul. |
| Abstract Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to... |
| Tipo: Journal article |
Palavras-chave: Hereditary and early onset breast cancer; Susceptibility genes; Pathogenic point mutations; Large genomic rearrangements; Ethnic composition. |
| Ano: 2017 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602017000100505 |
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| Brustolin,S.; Giugliani,R.; Félix,T.M.. |
| Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Homocysteine; Hyperhomocysteinemia; Folate metabolism; Single nucleotide polymorphism; Susceptibility genes. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100001 |
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