Breast Cancer Research and Treatment

, Volume 132, Issue 1, pp 29–39 | Cite as

Mutational characterization of individual breast tumors: TP53 and PI3K pathway genes are frequently and distinctively mutated in different subtypes

  • Sandrine Boyault
  • Youenn Drouet
  • Claudine Navarro
  • Thomas Bachelot
  • Christine Lasset
  • Isabelle Treilleux
  • Eric Tabone
  • Alain Puisieux
  • Qing WangEmail author
Preclinical study


Understanding how cancer genes are mutated in individual tumors is an important issue with potential clinical and therapeutic impact. This is especially relevant with recently developed targeted therapies since mutated genes can be targets and/or predictors. However, to date, gene mutation profiling in individual tumors is still underexplored. Breast cancer is composed of various subtypes. We presumed that this heterogeneity reflected the involvement of different molecular mechanisms including gene mutations that affect defined signaling pathways. Unlike the majority of published mutational studies, this study was aimed to draw a mutation profile in individual tumors by screening a panel of cancer genes in the same tumor. Thus, five genes frequently mutated in breast cancers: TP53, PIK3CA, PTEN, CDH1, and AKT1 were screened in each of 120 human primary breast tumors. Mutations in at least one of these genes were found in 62.5% of the tumors, of which the majority carried a single-gene mutation. Interestingly, a substantial proportion of tumors carried mutations either in TP53 or in genes of the PI3K pathway (PIK3CA or PTEN or AKT1). These two distinct mutation patterns were significantly associated to hormone receptor expression but independent of HER2 status.


Breast cancer Mutation screening PI3K pathway TP53 mutation 



This study was supported partially by funds from the Ligue Départementale de l’Ain and from Institut National du Cancer. We thank Pr Jean Yves Blay for helpful discussion, Thérèse Gargi for clinical data collection and documentation and George Hinkal for assistance in manuscript writing.

Conflict of interest



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Copyright information

© Springer Science+Business Media, LLC. 2011

Authors and Affiliations

  • Sandrine Boyault
    • 1
  • Youenn Drouet
    • 2
    • 9
  • Claudine Navarro
    • 1
  • Thomas Bachelot
    • 3
  • Christine Lasset
    • 2
    • 9
  • Isabelle Treilleux
    • 4
  • Eric Tabone
    • 5
  • Alain Puisieux
    • 6
    • 7
    • 8
  • Qing Wang
    • 1
    Email author
  1. 1.Laboratoire de Recherche TranslationnelleCentre Léon BérardLyon Cedex 08France
  2. 2.Département de Santé PubliqueCentre Léon BérardLyonFrance
  3. 3.Département de MédecineCentre Léon BérardLyonFrance
  4. 4.Département Anatomie et Cytologie PathologiqueCentre Léon BérardLyonFrance
  5. 5.Centre de Ressources BiologiquesCentre Léon BérardLyonFrance
  6. 6.Centre Léon BérardLyonFrance
  7. 7.InsermLyonFrance
  8. 8.Université de LyonLyon1France
  9. 9.Biométrie et Biologie évolutive, Université de LyonLyon 1France

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