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p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.
Oncogene 1992; 7(11):2169-73O

Abstract

Changes in the tumor-suppressor gene p53 are frequently acquired during the course of malignant development of human tumors. Recently, constitutional heterozygous mutations in p53 exon 7 have been identified as the primary cause of cancer predisposition in cases of the familial Li-Fraumeni cancer syndrome. These findings underline the need for extensive mutation screening in families with high cancer incidence. This report describes the detection and follow-up by two-dimensional single-strand conformation polymorphism analysis (2DSSCP) of a new germline mutation of p53 exon 8 in a case of suspected Li-Fraumeni syndrome. Although a high cancer incidence had been reported in the family history of the father of siblings suffering from brain tumor and rhabdomyosarcoma, a constitutional heterozygous p53 mutation was identified only in the affected children. Retrospective analysis of archival tissue of a half-sister who died several years ago from a tumor of previously uncertain diagnosis revealed the same mutation. The mutation had therefore occurred in the germ cells of the mother, who thus appears to be a mosaic. The cancer predisposition of the paternal ancestors must have been due to other factors.

Authors+Show Affiliations

Children's Cancer Research Institute, St Anna Kinderspital, Vienna, Austria.No 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

1359493

Citation

Kovar, H, et al. "P53 Mosaicism With an Exon 8 Germline Mutation in the Founder of a Cancer-prone Pedigree." Oncogene, vol. 7, no. 11, 1992, pp. 2169-73.
Kovar H, Auinger A, Jug G, et al. P53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. Oncogene. 1992;7(11):2169-73.
Kovar, H., Auinger, A., Jug, G., Müller, T., & Pillwein, K. (1992). P53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. Oncogene, 7(11), pp. 2169-73.
Kovar H, et al. P53 Mosaicism With an Exon 8 Germline Mutation in the Founder of a Cancer-prone Pedigree. Oncogene. 1992;7(11):2169-73. PubMed PMID: 1359493.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. AU - Kovar,H, AU - Auinger,A, AU - Jug,G, AU - Müller,T, AU - Pillwein,K, PY - 1992/11/1/pubmed PY - 1992/11/1/medline PY - 1992/11/1/entrez SP - 2169 EP - 73 JF - Oncogene JO - Oncogene VL - 7 IS - 11 N2 - Changes in the tumor-suppressor gene p53 are frequently acquired during the course of malignant development of human tumors. Recently, constitutional heterozygous mutations in p53 exon 7 have been identified as the primary cause of cancer predisposition in cases of the familial Li-Fraumeni cancer syndrome. These findings underline the need for extensive mutation screening in families with high cancer incidence. This report describes the detection and follow-up by two-dimensional single-strand conformation polymorphism analysis (2DSSCP) of a new germline mutation of p53 exon 8 in a case of suspected Li-Fraumeni syndrome. Although a high cancer incidence had been reported in the family history of the father of siblings suffering from brain tumor and rhabdomyosarcoma, a constitutional heterozygous p53 mutation was identified only in the affected children. Retrospective analysis of archival tissue of a half-sister who died several years ago from a tumor of previously uncertain diagnosis revealed the same mutation. The mutation had therefore occurred in the germ cells of the mother, who thus appears to be a mosaic. The cancer predisposition of the paternal ancestors must have been due to other factors. SN - 0950-9232 UR - https://www.unboundmedicine.com/medline/citation/1359493/p53_mosaicism_with_an_exon_8_germline_mutation_in_the_founder_of_a_cancer_prone_pedigree_ DB - PRIME DP - Unbound Medicine ER -