| Author | Andrade, Raissa Coelho | |
| Author | Santos, Anna Claudia Evangelista dos | |
| Author | Aguirre Neto, Joaquim Caetano de | |
| Author | Nevado, Julián | |
| Author | Lapunzina, Pablo | |
| Author | Vargas, Fernando Regla | |
| Access date | 2017-11-09T13:09:16Z | |
| Available date | 2017-11-09T13:09:16Z | |
| Document date | 2017 | |
| Citation | ANDRADE, Raissa Coelho; et al. TP53 and CDKN1A mutation analysis in families with Li–Fraumeni and Li–Fraumeni like syndromes.Familial Cancer, v.16, p.243–248, Oct. 2017. | pt_BR |
| ISSN | 1389-9600 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/23094 | |
| Language | eng | pt_BR |
| Publisher | Springer Verlag (Germany) | pt_BR |
| Rights | restricted access | |
| Subject in Portuguese | Genes p53 | pt_BR |
| Subject in Portuguese | Deleção de Genes | pt_BR |
| Subject in Portuguese | Inibidor de Quinase Dependente de Ciclina | pt_BR |
| Subject in Portuguese | Síndrome de Li-Fraumeni | pt_BR |
| Title | TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes | pt_BR |
| Type | Article | |
| DOI | 10.1007/s10689-016-9935-z | |
| Abstract | Li-Fraumeni and Li-Fraumeni like syndromes (LFS/LFL) represent rare cancer-prone conditions associated mostly with sarcomas, breast cancer, brain tumors, and adrenocortical carcinomas. TP53 germline mutations are present in up to 80 % of families with classic Li-Fraumeni syndrome, and in 20-60 % of families with Li-Fraumeni like phenotypes. The frequency of LFS/LFL families with no TP53 mutations detected suggests the involvement of other genes in the syndrome. In this study, we searched for mutations in TP53 in 39 probands from families with criteria for LFS/LFL. We also searched for mutations in the gene encoding the main mediator of p53 in cell cycle arrest, CDKN1A/p21, in all patients with no mutations in TP53. Eight probands carried germline disease-causing mutations in TP53: six missense mutations and two partial gene deletions. No mutations in CDKN1A coding region were detected. TP53 partial deletions in our cohort represented 25 % (2/8) of the mutations found, a much higher frequency than usually reported, emphasizing the need to search for TP53 rearrangements in patients with LFS/LFL phenotypes. Two benign tumors were detected in two TP53 mutation carriers: an adrenocortical adenoma and a neurofibroma, which raises a question about the possible implication of TP53 mutations on the development of such lesions. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Clínica de Oncologia Pediátrica da Santa Casa de Belo Horizonte. Belo Horizonte, MG, Brasil. | pt_BR |
| Affilliation | Universidad Auto´noma de Madrid. Instituto de Genética Médica y Molecular. Madrid, Spain. | pt_BR |
| Affilliation | Universidad Auto´noma de Madrid. Instituto de Genética Médica y Molecular. Madrid, Spain. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Ri de Janeiro, RJ, Brasil. | pt_BR |
| Subject | Li–Fraumeni syndrome | pt_BR |
| Subject | Li–Fraumeni like syndrome | pt_BR |
| Subject | TP53 | pt_BR |
| Subject | CDKN1A | pt_BR |
| Subject | Gene deletion | pt_BR |
| e-ISSN | 1573-7292 | |
| Embargo date | 2030-01-01 | |
