Article
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.
Familial cancer - 1 Apr 2017
Andrade Raissa Coelho, Dos Santos Anna Claudia Evangelista, de Aguirre Neto Joaquim Caetano, Nevado Julián, Lapunzina Pablo, Vargas Fernando Regla
Abstract excerpt
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...
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