Linked Life Data

20967502

Source:http://linkedlifedata.com/resource/pubmed/id/20967502

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-2-10
pubmed:abstractText
Childhood adrenocortical tumor (ACT), a very rare malignancy, has an annual worldwide incidence of about 0.3 per million children younger than 15 years. The association between inherited germline mutations of the TP53 gene and an increased predisposition to ACT was described in the context of the Li-Fraumeni syndrome. In fact, about two-thirds of children with ACT have a TP53 mutation. However, less than 10% of pediatric ACT cases occur in Li-Fraumeni syndrome, suggesting that inherited low-penetrance TP53 mutations play an important role in pediatric adrenal cortex tumorigenesis. We identified a novel inherited germline TP53 mutation affecting the acceptor splice site at intron 10 in a child with an ACT and no family history of cancer. The lack of family history of cancer and previous information about the carcinogenic potential of the mutation led us to further characterize it. Bioinformatics analysis showed that the non-natural and highly hydrophobic C-terminal segment of the frame-shifted mutant p53 protein may disrupt its tumor suppressor function by causing misfolding and aggregation. Our findings highlight the clinical and genetic counseling dilemmas that arise when an inherited TP53 mutation is found in a child with ACT without relatives with Li-Fraumeni-component tumors.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-10075936, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-10084604, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-10486318, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-10918596, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-11219776, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-11420676, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-11481490, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-14583457, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-16033918, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-17401424, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-18410249, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-18463136, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-19204208, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-19450511, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-1978757, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-7695963, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-8756672, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-8977035, http://linkedlifedata.com/resource/pubmed/commentcorrection/20967502-9792154
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1573-7292
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
141-6
pubmed:dateRevised
2011-7-26
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.
pubmed:affiliation
International Outreach Program, St. Jude Children's Research Hospital, Memphis, TN, 38105-3678, USA. emilia.pinto@stjude.org
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't