Article
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
The Journal of clinical endocrinology and metabolism - 1 Aug 2013
Azevedo Monalisa F, Horvath Anelia, Bornstein Ethan R, Almeida Madson Q, Xekouki Paraskevi, Faucz Fabio R, Gourgari Evgenia, Nadella Kiran, Remmers Elaine F, Quezado Martha, de Alexandre Rodrigo Bertollo, Kratz Christian P, Nesterova Maria, Greene Mark H, Stratakis Constantine A
Abstract excerpt
BACKGROUND: Familial testicular germ cell tumors (FTGCTs) are hypothesized to result from the combined interaction of multiple low-penetrance genes. We reported inactivating germline mutations of the cAMP-binding phosphodiesterase 11A (PDE11A) as modifiers of FTGCT risk. Recent genome-wide association studies have identified single-nucleotide polymorphisms in the KITLG gene, the ligand for the cKIT tyrosine...
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