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| Fortes,F.P.; Kuasne,H.; Marchi,F.A.; Miranda,P.M.; Rogatto,S.R.; Achatz,M.I.. |
| Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic and epigenetic alterations may be involved in this variability. However, the extent of involvement of such events has not been clarified. It is well established that p53 regulates several pathways, including the thymine DNA glycosylase (TDG) pathway, which regulates the DNA methylation of several genes. This study aimed to identify the DNA methylation pattern of genes potentially related to the TDG... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Li-Fraumeni syndrome; TP53 gene; TDG; Methylation. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2015000700610 |
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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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