Nucleotide sequence polymorphism in a hotspot mutation region of the p53 gene

G. R. Mazars, P. Jeanteur, Henry T. Lynch, G. Lenoir, C. Theillet

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

By screening for mutations in the p53 coding sequence by means of single-strand conformation polymorphism (SSCP) in a series of breast tumors we detected a novel polymorphism. This change in the SSCP pattern was detected in 6.2% of the tumor DNAs analysed and implied an A to G substitution at the last base of codon 213, thus representing a neutral change. First suspecting a somatic mutation we confirmed its presence in matched sets of DNAs from normal tissues. Extending our study to a series of 60 ovarian carcinomas and 70 healthy blood donors we noticed that this polymorphism represented only 3% and 2.6% respectively. We wondered if the difference in frequency in the breast cancer population might not be related to familial breast cancer and analysed 26 DNAs from patients showing predisposition to the disease. Two patients presented this polymorphism and one corresponding kindred was analysed, revealing a mendelian mode of transmission but no correlation with the cancer phenotype.

Original languageEnglish
Pages (from-to)781-782
Number of pages2
JournalOncogene
Volume7
Issue number4
StatePublished - 1992
Externally publishedYes

Fingerprint

p53 Genes
Mutation
DNA
Breast Neoplasms
Blood Donors
Codon
Neoplasms
Carcinoma
Phenotype
Population

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Mazars, G. R., Jeanteur, P., Lynch, H. T., Lenoir, G., & Theillet, C. (1992). Nucleotide sequence polymorphism in a hotspot mutation region of the p53 gene. Oncogene, 7(4), 781-782.

Nucleotide sequence polymorphism in a hotspot mutation region of the p53 gene. / Mazars, G. R.; Jeanteur, P.; Lynch, Henry T.; Lenoir, G.; Theillet, C.

In: Oncogene, Vol. 7, No. 4, 1992, p. 781-782.

Research output: Contribution to journalArticle

Mazars, GR, Jeanteur, P, Lynch, HT, Lenoir, G & Theillet, C 1992, 'Nucleotide sequence polymorphism in a hotspot mutation region of the p53 gene', Oncogene, vol. 7, no. 4, pp. 781-782.
Mazars GR, Jeanteur P, Lynch HT, Lenoir G, Theillet C. Nucleotide sequence polymorphism in a hotspot mutation region of the p53 gene. Oncogene. 1992;7(4):781-782.
Mazars, G. R. ; Jeanteur, P. ; Lynch, Henry T. ; Lenoir, G. ; Theillet, C. / Nucleotide sequence polymorphism in a hotspot mutation region of the p53 gene. In: Oncogene. 1992 ; Vol. 7, No. 4. pp. 781-782.
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