MATADOR and EXPECT projects: identification of new predictive factors for male breast cancer (MATADOR) and young colon cancer (EXPECT).

Dr Christine Toulas

Male Breast Cancer (MBC) and Early Onset Colorectal Cancer (EOCRC) are rare diseases whose pathophysiology is still poorly understood. The risk factors for MBC or EOCRC described to date may be genetic or environmental, such as a personal and/or family history of cancer or occupational exposure to certain genotoxic substances. The only risk factor clearly identified to date remains the presence of a pathogenic variant (or mutation) in the genes predisposing to these cancers, genes that are routinely analysed in panels in the Oncogenetics laboratory (HBOC panel for breast cancer, DIGE panel for colon cancer).

An initial extensive analysis is currently being carried out on the basis of data collected in a large panel of genes (591 genes). Nevertheless, in order to better take into account the entire risk of MBC or EOCRC, a project based solely on the analysis of constitutional genetic variants from predefined panels or on life data does not seem to us to be sufficient to define a risk profile for developing MBC or EOCRC. We will extend our first approach to search for predisposing factors by combining constitutional genetic data obtained from exome sequencing of a population of HBOC- or EOCRC DIGE- MBCs (i.e. without pathogenic variants found, respectively, in the HBOC and DIGE panels), in relation to the environmental factors to which these patients are exposed and to their lifestyle. In a first step, the comparative study of the genetic profiles of HBOC- or DIGE- EOCRC and the genetic profiles of control populations will allow the identification of genetic predisposing factors of MBC or EOCRC. In a second step, the description of the joint distribution of these genetic factors and the environmental factors to which the patients are exposed, will allow the identification of potential subgroups in patients with MBC or EOCRC.

This risk profile of CBD or CRBD will lead to the identification of patients at risk of CBD or CRBD within families at risk without an identified familial genetic predisposition in order to offer them an adapted management. We also hope to highlight the biological pathways involved in this risk to understand the mechanisms of oncogenesis of MBC and EOCRC and to define therapeutic targets.

Keywords :

  • Pharmacokinetics,
  • Pharmacogenetics,
  • Modelling,
  • Individualisation of treatments,
  • Therapeutic follow-up pharmacologist,
  • Liquid chromatography,
  • Theranostic radiolabelled molecules,
  • Family genetic predisposition


  • National and regional PHRC,
  • ANSM,
  • Industrialists

Illustration :


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