Article
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Nature medicine - 1 Oct 2017
Bal Elodie, Park Hyun-Sook, Belaid-Choucair Zakia, Kayserili Hülya, Naville Magali, Madrange Marine, Chiticariu Elena, Hadj-Rabia Smail, Cagnard Nicolas, Kuonen Francois, Bachmann Daniel, Huber Marcel, Le Gall Cindy, Côté Francine, Hanein Sylvain, Rosti Rasim Özgür, Aslanger Ayca Dilruba, Waisfisz Quinten, Bodemer Christine, Hermine Olivier, Morice-Picard Fanny, Labeille Bruno, Caux Frédéric, Mazereeuw-Hautier Juliette, Philip Nicole, Levy Nicolas, Taieb Alain, Avril Marie-Françoise, Headon Denis J, Gyapay Gabor, Magnaldo Thierry, Fraitag Sylvie, Crollius Hugues Roest, Vabres Pierre, Hohl Daniel, Munnich Arnold, Smahi Asma
Abstract excerpt
Basal cell carcinoma (BCC), the most common human cancer, results from aberrant activation of the Hedgehog signaling pathway. Although most cases of BCC are sporadic, some forms are inherited, such as Bazex-Dupré-Christol syndrome (BDCS)-a cancer-prone genodermatosis with an X-linked, dominant inheritance pattern. We have identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in...
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