p53 mutations occur in aggressive breast cancer

Raoul Mazars, Laura Spinardi, Meryem BenCheikh, Joelle Simony-Lafontaine, Philippe Jeanteur, Charles Theillet

Research output: Contribution to journalArticlepeer-review


Using a polymerase chain reaction-single strand conformation polymorphism approach we analyzed 96 human primary breast tumors for the presence of mutations in exons 2, 5, 6, 7, 8, and 9 of the p53 gene. These exons have been shown to comprise highly conserved sequences and the portion including exons 5 through 9 is believed to be the target for over 90% of the acquired mutations in human cancer. Eighteen tumors of the 96 (18.7%) tested showed reproducibly a variant band indicative of a mutation. Most (15 tumors) of the mutations were single nucleotide substitutions and G:C to A:T transitions were prevalent (6 tumors), G:C to T:A transversions came next (4 tumors), and guanines were always on the nontranscribed strand. Concomitant loss of the wild type allele and mutation of the other copy was observed in only 3 of 18 mutated cases; this is consistent with the heterogeneous cellular composition of breast tumors. Furthermore p53 mutations were correlated to estrogen and/or progesterone receptor negative tumors, thus indicating their relationships to aggressive breast cancer. No association could be observed with DNA amplification events in these tumors.

Original languageEnglish
Pages (from-to)3918-3923
Number of pages6
JournalCancer Research
Issue number14
Publication statusPublished - Jul 15 1992

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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