Breast cancer and trisomy 21: a new publication for the Jérôme Lejeune Institute

A study on the link between breast cancer and trisomy 21, conducted by a team of researchers from the Institut Jérôme Lejeune, using biological resources from the CRB-BioJeL*, has just been published in the journal Scientific Reports*.

This study is based on the observation that people with trisomy 21, in whom several pathologies are prevalent (Alzheimer’s disease, heart disease, sleep apnea syndromes, etc.) seem to be protected against other pathologies. This is the case of breast cancer, which is almost non-existent in women with trisomy 21, as the doctors at the Institut Jérôme Lejeune have been observing for years.

This study compared the genetic characteristics of women with trisomy 21 presenting with breast cancer and those who were free of it. The results show that 4 genes, carried by chromosome 7, involved in the regulation of immune cells are over-expressed in women with trisomy 21 without breast cancer, i.e. have too much activity: GIMAP4, GIMAP6, GIMAP7 and GIMAP8. These genes therefore seem to have a protective role against breast tumours. Other studies and samples have yet to confirm these initial results.

The results show that trisomy 21 deregulates genes carried by another chromosome than the 21st. Then they suggest new therapeutic targets to cure the breast cancer and make it possible to advance in the knowledge of the immune system. And finally, they show that medical surveillance of people with trisomy 21 and research concerning them have beneficial repercussions for the general population.


André Mégarbané, David Piquemal, Anne-Sophie Rebillat, Samantha Stora, Fabien Pierrat, Roman Bruno, Florian Noguier, Clotilde Mircher, Aimé Ravel, Marie Vilaire-Meunier, Sophie Durand & Gérard Lefranc,Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer. Sci Rep 10, 9447 (2020).