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The team of Sandrine Humbert shows that the protein is expressed in both normal mammary epithelia and tumors. Mutant huntingtin enhances tumor aggressiveness. Indeed, it accelerates epithelial to mesenchymal transition and enhances cell motility, invasion and metastasis. At the cellular level, in the presence of mutant huntingtin the dynamin dependent endocytosis of the ErbB2/HER2 receptor tyrosine kinase is reduced. This leads to its accumulation and to subsequent increases in cell motility and proliferation.

This data should not only trigger epidemiological studies on breast cancer in the HD population but may also sensitize clinicians and HD families to specific follow-up that will positively affect the quality of life of HD patients. While clinical studies suggest the incidence of cancer to be lower in the HD population, we propose that the progression could be enhanced in specific cases.