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| Andrade,Kelvin C.; Santiago,Karina M.; Fortes,Fernanda P.; Mambelli,Lisley I.; Nóbrega,Amanda F.; Achatz,Maria I.. |
| Abstract Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer but the penetrance is lower than in typical DNA binding domain mutations. To date, only a few families were detected and diagnosis of carriers remains a challenge. Therefore, the inclusion of additional criteria to detect p.R337H carriers is necessary for the Brazilian population. We assessed the A.C. Camargo Cancer Center Oncogenetics Department database in search of common characteristics associated... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Breast cancer; Li-Fraumeni syndrome; P.R337H; TP53. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200199 |
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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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| Lopes,Leandra Fiori; Guembarovski,Roberta Losi; Guembarovski,Alda Losi; Kishima,Marina Okuyama; Campos,Clodoaldo Zago; Derossi,Daniela Rudgeri; Ariza,Carolina Batista; Ozawa,Patricia Midori Murobushi; Oliveira,Carlos Eduardo Coral de; Banin-Hirata,Bruna Karina; Vitiello,Glauco Akelinghton Freire; Borelli,Sueli Donizete; Watanabe,Maria Angelica Ehara. |
| A subgroup of tumor that has received attention is triple-negative breast cancer (TNBC), which presents phenotype of negative estrogen receptor, negative progesterone receptor and has no overexpression of HER2. TP53 acts as a tumor suppressor limiting the proliferation of damaged cells. A polymorphic site (rs1042522) of TP53 encodes either an arginine or a proline amino acid, but its biological significance remains unclear. This study aimed to investigate this variant and its expression in search for a possible involvement in TNBC susceptibility and clinical outcome. Genetic polymorphism was evaluated in 50 patients and 115 controls by PCR based methodology and immunohistochemistry was done with monoclonal antibody. Case-control study showed no positive or... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breast cancer; TNBC; TP53; Genetic polymorphism; Immunohistochemistry. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132014000600895 |
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| Burbano,R.R.; Medeiros,A.C.; Mello,A.A.; Lemos,J.A.; Bahia,M.O.; Casartelli,C.. |
| Breast cancer in families with germ line mutations in the TP53 gene has been described in the medical literature. Mutation screening for susceptibility genes should allow effective prophylactic and preventive measures. Using single-strand conformational polymorphism, we screened for mutations in exons 5, 6, 7 and 8 of gene TP53 in the peripheral blood of 8 young non-affected members (17 to 36 years old) of families with a history of breast cancer. Studies of this type on young patients (mean age, 25 years) are very rare in the literature. The identification of these mutations would contribute to genetic counseling of members of families with predisposition to breast cancer. The results obtained did not show any polymorphism indicating mutation. In our... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: TP53; Family history of breast cancer; Mutation screening; Early breast cancer. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001100010 |
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| Lima,E.M.; Leal,M.F.; Burbano,R.R.; Khayat,A.S.; Assumpção,P.P.; Bello,M.J.; Rey,J.A.; Smith,M.A.C.; Casartelli,C.. |
| Gastric cancer is the forth most frequent malignancy and the second most common cause of cancer death worldwide. DNA methylation is the most studied epigenetic alteration, occurring through a methyl radical addition to the cytosine base adjacent to guanine. Many tumor genes are inactivated by DNA methylation in gastric cancer. We evaluated the DNA methylation status of ANAPC1, CDKN2A and TP53 by methylation-specific PCR in 20 diffuse- and 26 intestinal-type gastric cancer samples and 20 normal gastric mucosa in individuals from Northern Brazil. All gastric cancer samples were advanced stage adenocarcinomas. Gastric samples were surgically obtained at the João de Barros Barreto University Hospital, State of Pará, and were stored at -80°C before DNA... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: DNA methylation; Gastric cancer; ANAPC1; CDKN2A; TP53. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000600017 |
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