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| Palmero,Edenir Inêz; Alemar,Bárbara; Schüler-Faccini,Lavínia; Hainaut,Pierre; Moreira-Filho,Carlos Alberto; Ewald,Ingrid Petroni; Santos,Patricia Koehler dos; Ribeiro,Patricia Lisbôa Izetti; Oliveira Netto,Cristina Brinkmann de; Calvez-Kelm,Florence Le; Tavtigian,Sean; Cossio,Silvia Liliana; Giugliani,Roberto; Caleffi,Maira; Ashton-Prolla,Patricia. |
| Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA). If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breast cancer predisposition syndrome; Hereditary breast cancer; Genetic cancer risk assessment. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200210 |
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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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