The TP53 mutation, R337H, is associated with Li-Fraumeniand Li-Fraumeni-like syndromes in Brazilian families
Achatz, Maria Isabel Waddington; Olivier, Magali; Le Calvez, Florence; Martel Planche, Ghyslaine; Lopes, Ademar; Rossi, Benedito Mauro; Ashton-Prolla, Patricia; Giugliani, Roberto; Palmero, Edenir Inez; Vargas, Fernando Regla; Rocha, Jos Claudio Casali da; Vettore, Andre Luiz; Hainaut, Pierre.
Cancer Lett
; 245(1-2): 96-102, Jan.8, 2007. ilus, tab
Artigo
em Inglês
| TXTC | ID: txt-24646
but no documented familial history of other cancers. Here, we have screened for TP53 mutation 45 Brazilian unrelated individualswith family histories fulfilling the clinical definitions of Li-Fraumeni (LFS) or Li-Fraumeni-like (LFL) syndromes. Mutations werefound in 13 patients (28.9%), including six (46.1%) R337H mutations, and four novel germline mutations (V173M, V197M,G244D and IVS6C1GOT). Families with the R337H mutation presented a wide spectrum of tumours, including breast cancers(30.4%), brain cancers (10.7%), soft tissue sarcomas (10.7%) and adrenocortical carcinomas (8.9%). Testing of 53 Braziliansubjects with no cancer history showed that R337H was not a common polymorphism in that population. Moreover, loss ofheterozygocity with retention of the R337H allele was observed in a breast adenocarcinoma, supporting a role for this mutation inbreast tumorigenesis. These results show that the TP53 R337H germline mutation predisposes to a larger spectrum of tumours,similar to the one reported for other TP53 mutations.(AU)
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BR440.1
Localização: BR440.1
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