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| Lourenço,Juliano Javert; Vargas,Fernando R.; Bines,José; Santos,Elizete M.; Lasmar,Cezar A. P.; Costa,Célia H.; Teixeira,Eliane M. B.; Maia,Maria C. M.; Coura,Fátima; Silva,Carlos H. D.; Moreira,Miguel A. M.. |
| BRCA1 mutations are known to be responsible for the majority of hereditary breast and ovarian cancers in women with early onset and a family history of the disease. In this paper we present a mutational survey conducted in 47 Brazilian patients with breast/ovarian cancer, selected based on age at diagnosis, family history, tumor laterality, and presence of breast cancer in male patients. All 22 coding exons and intron-exon junctions were sequenced. Constitutional mutations were found in seven families, consisting of one insertion (insC5382) in exon 20 (four patients), one four base-pair deletion (3450-3453delCAAG) in exon 11 resulting in a premature stop codon (one patient), one transition (IVS17+2T> C) in intron 17 affecting a mRNA splicing site (one... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: BRCA1; Breast cancer; Ovarian cancer. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400006 |
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| Cardoso,Leila C.A.; Castaño,Jair A. Tenorio; Pereira,Hanna S.; Lima,Maria Angélica de F.D.; Santos,Anna Cláudia E. dos; Faria,Paulo S. de; Ferman,Sima; Seuánez,Héctor N.; Nevado,Julián B.; Almeida,José Carlos Cabral de; Lapunzina,Pablo; Vargas,Fernando R.. |
| The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples:... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Epigenetic; Histopathology; Methylation; MS-MLPA; Pyrosequencing. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500002 |
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