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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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| Savastano,Clarice Pagani; El-Jaick,Kênia Balbi; Costa-Lima,Marcelo Aguiar; Abath,Cristina Maria Batista; Bianca,Sebastiano; Cavalcanti,Denise Pontes; Félix,Têmis Maria; Scarano,Gioacchino; Llerena Jr,Juan Clinton; Vargas,Fernando Regla; Moreira,Miguel Ângelo Martins; Seuánez,Hector N.; Castilla,Eduardo Enrique; Orioli,Iêda Maria. |
| Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lateral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female patients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Holoprosencephaly; ECLAMC; SHH; ZIC2; SIX3. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011 |
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