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| Registros recuperados: 14 | |
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| Palmero,Edenir I.; Caleffi,Maira; Schüler-Faccini,Lavínia; Roth,Fernanda L.; Kalakun,Luciane; Netto,Cristina Brinkmann Oliveira; Skonieski,Giovana; Giacomazzi,Juliana; Weber,Bernadete; Giugliani,Roberto; Camey,Suzi A.; Ashton-Prolla,Patricia. |
| In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ³ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breast cancer; Genetic counseling; Hereditary cancer syndromes. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300004 |
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| Fitarelli-Kiehl,Mariana; Macedo,Gabriel S.; Schlatter,Rosane Paixão; Koehler-Santos,Patricia; Matte,Ursula da Silveira; Ashton-Prolla,Patricia; Giacomazzi,Juliana. |
| Abstract Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Several genotyping methods are used for the molecular diagnosis of LFS/LFL, however Sanger sequencing is still considered the gold standard. We compared performance, cost and turnaround time of Sanger sequencing, PCR-RFLP, TaqMan-PCR and HRM in the p.R337H genotyping. The performance was determined by analysis of 95 genomic DNA samples and results were 100% concordant for all methods. Sequencing was the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: TP53-p.R337H; RFLP; TaqMan; HRM; Sanger Sequencing. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200203 |
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| Palmero,Edenir Inêz; Campacci,Natalia; Schüler-Faccini,Lavinia; Giugliani,Roberto; Rocha,José Claudio Casali da; Vargas,Fernando Regla; Ashton-Prolla,Patricia. |
| Abstract In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry and cancer risk perception during CGC sessions in Brazilian women at-risk for hereditary breast cancer. This study was performed in 264 individuals seeking CGC for hereditary breast cancer. Both cancer-affected and unaffected individuals were included. As results, individuals with and without cancer reported different motivations for seeking CGC and undergoing genetic testing. A correlation was observed between age at the first CGC session and age at which the closest relative was diagnosed with cancer. Multivariate analysis... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hereditary breast cancer; Hereditary cancer; Cancer-related worry; Cancer risk perception; Genetic counselling. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400104 |
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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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| Paskulin,Diego d'Avila; Paixão-Côrtes,Vanessa Rodrigues; Hainaut,Pierre; Bortolini,Maria Cátira; Ashton-Prolla,Patricia. |
| The TP53 gene, first described in 1979, was identified as a tumor suppressor gene in 1989, when it became clear that its product, the p53 nuclear phosphoprotein, was frequently inactivated in many different forms of cancers. Nicknamed "guardian of the genome", TP53 occupies a central node in stress response networks. The p53 protein has a key role as transcription factor in limiting oncogenesis through several growth suppressive functions, such as initiating apoptosis, senescence, or cell cycle arrest. The p53 protein is directly inactivated in about 50% of all tumors as a result of somatic gene mutations or deletions, and over 80% of tumors demonstrate dysfunctional p53 signaling. Beyond the undeniable importance of p53 as a tumor suppressor, an... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: TP53; Fertility; P53 network. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600008 |
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| Registros recuperados: 14 | |
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