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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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| 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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