ArticleFamilial cancer2011
Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.
Article in Familial cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor.World journal of surgical oncology · 2021Article
- TERT promoter mutations and prognosis in solitary fibrous tumor.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2016Article
- The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.EMBO molecular medicine · 2016Review
- Splice-acceptor site mutation in p53 gene of hu888 zebrafish line.Journal of applied genetics · 2015Article
- A differential diagnosis of inherited endocrine tumors and their tumor counterparts.Clinics (Sao Paulo, Brazil) · 2013Review
- Towards an understanding of the role of p53 in adrenocortical carcinogenesis.Molecular and cellular endocrinology · 2012Review
- TP53-Associated Pediatric Malignancies.Genes & cancer · 2011Article
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Authors and funding
10 authors.
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Abstract
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.
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