Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7825-9.

Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

Metzger AK, Sheffield VC, Duyk G, Daneshvar L, Edwards MS, Cogen PH.

Source

Brain Tumor Research Center, University of California, San Francisco 94143.

Abstract

We detected a germ-line mutation of the p53 gene in a patient with a malignant ependymoma of the posterior fossa. This mutation, which was found at codon 242, resulted in an amino acid substitution in a highly conserved site of exon 7 of the p53 gene; the same mutation was found in both the germ-line and the tumor tissue. This is the most common region of previously described somatic p53 mutations in tumor specimens and of the germ-line p53 mutations in patients with the Li-Fraumeni cancer syndrome. Evaluation of the patient's family revealed several direct maternal and paternal relatives who had died at a young age from different types of cancer. The association of a germ-line p53 mutation with an intracranial malignancy and a strong family history of cancer suggests that p53 gene mutations predispose a person to malignancy and, like retinoblastoma mutations, may be inherited.

PMID:: 1679237; [PubMed - indexed for MEDLINE]
PMCID:: PMC52396

Free PMC Article

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma. [J Natl Cancer Inst. 1992]
Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma.
Sameshima Y, Tsunematsu Y, Watanabe S, Tsukamoto T, Kawa-ha K, Hirata Y, Mizoguchi H, Sugimura T, Terada M, Yokota J. J Natl Cancer Inst. 1992 May 6; 84(9):703-7.
Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. [Proc Natl Acad Sci U S A. 1992]
Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.
Frebourg T, Kassel J, Lam KT, Gryka MA, Barbier N, Andersen TI, Børresen AL, Friend SH. Proc Natl Acad Sci U S A. 1992 Jul 15; 89(14):6413-7.
A germ line mutation in exon 5 of the p53 gene in an extended cancer family. [Cancer Res. 1991]
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
Law JC, Strong LC, Chidambaram A, Ferrell RE. Cancer Res. 1991 Dec 1; 51(23 Pt 1):6385-7.
Review Cancer risks from germ line tumor suppressor gene mutations. [Princess Takamatsu Symp. 1991]
Review Cancer risks from germ line tumor suppressor gene mutations.
Frebourg T, Malkin D, Friend S. Princess Takamatsu Symp. 1991; 22:61-70.
Review Rare occurrence of inactivating p53 gene mutations in primary non-astrocytic tumors of the central nervous system: reappraisal by yeast functional assay. [Acta Neuropathol. 1998]
Review Rare occurrence of inactivating p53 gene mutations in primary non-astrocytic tumors of the central nervous system: reappraisal by yeast functional assay.
Nozaki M, Tada M, Matsumoto R, Sawamura Y, Abe H, Iggo RD. Acta Neuropathol. 1998 Mar; 95(3):291-6.

See reviews... See all...

Cited by 15 PubMed Central articles

Spindle assembly checkpoint and p53 deficiencies cooperate for tumorigenesis in mice. [Int J Cancer. 2009]
Spindle assembly checkpoint and p53 deficiencies cooperate for tumorigenesis in mice.
Chi YH, Ward JM, Cheng LI, Yasunaga J, Jeang KT. Int J Cancer. 2009 Mar 15; 124(6):1483-9.
Review Biological background of pediatric medulloblastoma and ependymoma: a review from a translational research perspective. [Neuro Oncol. 2008]
Review Biological background of pediatric medulloblastoma and ependymoma: a review from a translational research perspective.
de Bont JM, Packer RJ, Michiels EM, den Boer ML, Pieters R. Neuro Oncol. 2008 Dec; 10(6):1040-60. Epub 2008 Aug 1.
Review Li-Fraumeni syndrome--a molecular and clinical review. [Br J Cancer. 1997]
Review Li-Fraumeni syndrome--a molecular and clinical review.
Varley JM, Evans DG, Birch JM. Br J Cancer. 1997; 76(1):1-14.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Identification of a germ-line mutation in the p53 gene in a patient with an intr...
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.
Proc Natl Acad Sci U S A. 1991 Sep 1 ;88(17):7825-9.

PubMed
Biocompatibility of native and functionalized single-walled carbon nanotubes for...
Biocompatibility of native and functionalized single-walled carbon nanotubes for neuronal interface.
J Nanosci Nanotechnol. 2006 May ;6(5):1365-74.

PubMed
Local field potential spectral tuning in motor cortex during reaching.
Local field potential spectral tuning in motor cortex during reaching.
IEEE Trans Neural Syst Rehabil Eng. 2006 Jun ;14(2):180-3.

PubMed
The use of glass ionomers as a chemical treatment for caries.
The use of glass ionomers as a chemical treatment for caries.
Pract Proced Aesthet Dent. 2006 May ;18(4):248-50.

PubMed
Buspirone and related compounds as alternative anxiolytics.
Buspirone and related compounds as alternative anxiolytics.
Neuropeptides. 1991 Jul ;19 Suppl:15-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

Source

Abstract

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 15 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information