Article
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
Cancer research - 1 Jul 2009
Horvath Anelia, Korde Larissa, Greene Mark H, Libe Rossella, Osorio Paulo, Faucz Fabio Rueda, Raffin-Sanson Marie Laure, Tsang Kit Man, Drori-Herishanu Limor, Patronas Yianna, Remmers Elaine F, Nikita Maria Eleni, Moran Jason, Greene Joseph, Nesterova Maria, Merino Maria, Bertherat Jerome, Stratakis Constantine A
Abstract excerpt
Inactivating germline mutations in phosphodiesterase 11A (PDE11A) have been implicated in adrenal tumor susceptibility. PDE11A is highly expressed in endocrine steroidogenic tissues, especially the testis, and mice with inactivated Pde11a exhibit male infertility, a known testicular germ cell tumor (TGCT) risk factor. We sequenced the PDE11A gene-coding region in 95 patients with TGCT from 64 unrelated kindreds....
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