Fiche publication
Date publication
octobre 2018
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BARDOU Marc
,
Pr FAIVRE Laurence
,
Pr VABRES Pierre
,
Pr LOFFROY Romaric
Tous les auteurs :
Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C, ,Vabres P, Semple RK, Biesecker LG
Lien Pubmed
Résumé
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor signaling. As mTOR mediates the growth-promoting actions of PI3K, we hypothesized that the mTOR inhibitor sirolimus would slow pathological overgrowth.
Mots clés
PIK3CA, mosaicism, overgrowth, sirolimus
Référence
Genet. Med.. 2018 Oct 1;:
