A Germ Line Mutation in Exon 5 of the p53 Gene in an Extended Cancer Family

John C. Law, Louise C. Strong, Murami Chidambaram, Robert E. Ferrei

Research output: Contribution to journalArticle

81 Citations (Scopus)

Abstract

Germ line p53 point mutations have been reported for some families with Li-Fraumeni syndrome, a syndrome characterized by a dominanti}' inherited increased susceptibility for the development of early age of onset neoplasms of diverse origin in multiple family members. All of the initially reported pS3 germ line mutations have been found exclusively within a single conserved, nonpolymorphic region of the gene between Condons 245 and 258. The restricted distribution of these inherited mutations has led to speculation that germ line pS3 mutations have unique properties |B. Vogelstein, Nature (Lond.), 348: 681-682, 1990]. We report here on the identification of a pS3 germ line mutation at codon 133 (ATG â€″¿AÂC»G) in nine members of an extended Li-Fraumeni syndrome family. This mutation leads to an amino acid substitution in the protein and is shown to completely cosegregate with Li-Fraumeni syndrome associated cancer in this family. Its location extends the region of the p53 gene where inherited mutations predisposing to cancer are observed and suggests that their distribution may be diverse.

Original languageEnglish (US)
Pages (from-to)6385-6387
Number of pages3
JournalCancer research
Volume51
StatePublished - Dec 1991

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Germ-Line Mutation
Li-Fraumeni Syndrome
p53 Genes
Exons
Mutation
Neoplasms
Amino Acid Substitution
Age of Onset
Point Mutation
Germ Cells
Codon
Genes
Proteins

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Law, J. C., Strong, L. C., Chidambaram, M., & Ferrei, R. E. (1991). A Germ Line Mutation in Exon 5 of the p53 Gene in an Extended Cancer Family. Cancer research, 51, 6385-6387.

A Germ Line Mutation in Exon 5 of the p53 Gene in an Extended Cancer Family. / Law, John C.; Strong, Louise C.; Chidambaram, Murami; Ferrei, Robert E.

In: Cancer research, Vol. 51, 12.1991, p. 6385-6387.

Research output: Contribution to journalArticle

Law, JC, Strong, LC, Chidambaram, M & Ferrei, RE 1991, 'A Germ Line Mutation in Exon 5 of the p53 Gene in an Extended Cancer Family', Cancer research, vol. 51, pp. 6385-6387.
Law, John C. ; Strong, Louise C. ; Chidambaram, Murami ; Ferrei, Robert E. / A Germ Line Mutation in Exon 5 of the p53 Gene in an Extended Cancer Family. In: Cancer research. 1991 ; Vol. 51. pp. 6385-6387.
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