Tags

Type your tag names separated by a space and hit enter

A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm.
Oncogene 1993; 8(5):1203-10O

Abstract

A novel germline p53 splicing mutation was identified in a pediatric patient with two metachronous primary cancers that are constituent tumors of the Li-Fraumeni syndrome. Genomic DNA from the second tumor showed the same mutation and loss of heterozygosity at the p53 locus. The mutant mRNA and protein were present in the tumor tissue. In contrast, in the normal tissues bearing the germline mutation in the heterozygous state, predominantly normal mRNA was expressed and the mutant p53 protein was not detectable. The functional silence and relative lack of mutant p53 mRNA expression in the normal tissues of this patient may be caused by decreased stability or decreased production. If this proves a more general pattern of expression of mutant p53 in individuals with germline mutations, these findings may explain the paucity of tumors in individuals affected with the Li-Fraumeni syndrome.

Authors+Show Affiliations

Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania 19104.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8479743

Citation

Felix, C A., et al. "A Novel Germline P53 Splicing Mutation in a Pediatric Patient With a Second Malignant Neoplasm." Oncogene, vol. 8, no. 5, 1993, pp. 1203-10.
Felix CA, Strauss EA, D'Amico D, et al. A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. Oncogene. 1993;8(5):1203-10.
Felix, C. A., Strauss, E. A., D'Amico, D., Tsokos, M., Winter, S., Mitsudomi, T., ... Horowitz, M. E. (1993). A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. Oncogene, 8(5), pp. 1203-10.
Felix CA, et al. A Novel Germline P53 Splicing Mutation in a Pediatric Patient With a Second Malignant Neoplasm. Oncogene. 1993;8(5):1203-10. PubMed PMID: 8479743.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm. A1 - Felix,C A, AU - Strauss,E A, AU - D'Amico,D, AU - Tsokos,M, AU - Winter,S, AU - Mitsudomi,T, AU - Nau,M M, AU - Brown,D L, AU - Leahey,A M, AU - Horowitz,M E, PY - 1993/5/1/pubmed PY - 1993/5/1/medline PY - 1993/5/1/entrez SP - 1203 EP - 10 JF - Oncogene JO - Oncogene VL - 8 IS - 5 N2 - A novel germline p53 splicing mutation was identified in a pediatric patient with two metachronous primary cancers that are constituent tumors of the Li-Fraumeni syndrome. Genomic DNA from the second tumor showed the same mutation and loss of heterozygosity at the p53 locus. The mutant mRNA and protein were present in the tumor tissue. In contrast, in the normal tissues bearing the germline mutation in the heterozygous state, predominantly normal mRNA was expressed and the mutant p53 protein was not detectable. The functional silence and relative lack of mutant p53 mRNA expression in the normal tissues of this patient may be caused by decreased stability or decreased production. If this proves a more general pattern of expression of mutant p53 in individuals with germline mutations, these findings may explain the paucity of tumors in individuals affected with the Li-Fraumeni syndrome. SN - 0950-9232 UR - https://www.unboundmedicine.com/medline/citation/8479743/A_novel_germline_p53_splicing_mutation_in_a_pediatric_patient_with_a_second_malignant_neoplasm_ DB - PRIME DP - Unbound Medicine ER -