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| Ewald,Ingrid Petroni; Cossio,Silvia Liliana; Palmero,Edenir Inez; Pinheiro,Manuela; Nascimento,Ivana Lucia de Oliveira; Machado,Taisa Manuela Bonfim; Sandes,Kiyoko Abe; Toralles,Betânia; Garicochea,Bernardo; Izetti,Patricia; Pereira,Maria Luiza Saraiva; Bock,Hugo; Vargas,Fernando Regla; Moreira,Miguel Ângelo Martins; Peixoto,Ana; Teixeira,Manuel R.; Ashton-Prolla,Patricia. |
| Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breast cancer; Hereditary Breast and Ovarian Cancer syndrome; Gene rearrangements; BRCA gene. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200223 |
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| Silvestre,Daniela; Dowton,Mark; Arias,Maria Cristina. |
| At present a complete mtDNA sequence has been reported for only two hymenopterans, the Old World honey bee, Apis mellifera and the sawfly Perga condei. Among the bee group, the tribe Meliponini (stingless bees) has some distinction due to its Pantropical distribution, great number of species and large importance as main pollinators in several ecosystems, including the Brazilian rain forest. However few molecular studies have been conducted on this group of bees and few sequence data from mitochondrial genomes have been described. In this project, we PCR amplified and sequenced 78% of the mitochondrial genome of the stingless bee Melipona bicolor (Apidae, Meliponini). The sequenced region contains all of the 13 mitochondrial protein-coding genes, 18 of 22... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Melipona bicolor; Meliponini; Social insects; Mitochondrial genome; Gene rearrangements. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300010 |
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