Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.
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DOI：
10.1136/jmg.2008.059568
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发表时间：
2008-09
影响因子：
4
通讯作者：
Zambetti GP
中科院分区：
文献类型：
--
作者：
Russell-Swetek A;West AN;Mintern JE;Jenkins J;Rodriguez-Galindo C;Ribeiro R;Zambetti GP
Pediatric choroid plexus carcinomas (CPC) and adrenocortical carcinomas (ACC) are exceedingly rare tumors, each occurring at an annual rate of 0.3 cases per million children or less. Although both tumor types are associated with Li-Fraumeni Syndrome (LFS), the penetrance of germline TP53 mutations in CPC remains to be established. We report here a young boy without a family history of cancer who presented with CPC and subsequently ACC. Genetic testing revealed a novel de novo germline TP53 mutation (E285V). Neither tumor underwent loss of heterozygosity. Consistent with this observation, functional analyses demonstrated that E285V acts as a dominant-negative mutant that is defective in regulating target gene expression, growth suppression and apoptosis. These results further strengthen the association between germline TP53 mutations and childhood CPC, even when occurring in the absence of familial tumor susceptibility.
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影响因子：
9.8
作者：
Varley, JM;McGown, G;Birch, JM
通讯作者：
Birch, JM
DOI：
10.1097/00005072-199811000-00009
发表时间：
1998-11-01
影响因子：
3.2
作者：
Vital, A;Bringuier, PP;Ohgaki, H
通讯作者：
Ohgaki, H
影响因子：
56.9
作者：
MALKIN, D;LI, FP;FRIEND, SH
通讯作者：
FRIEND, SH
影响因子：
8.8
作者：
Wolff, JEA;Sajedi, M;Brant, R;Coppes, MJ;Egeler, RM
通讯作者：
Egeler, RM
影响因子：
3.9
作者：
Petitjean, Audrey;Mathe, Ewy;Olivier, Magali
通讯作者：
Olivier, Magali