Article
Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Endocrine-related cancer - 1 Dec 2015
Pathak Anand, Stewart Douglas R, Faucz Fabio R, Xekouki Paraskevi, Bass Sara, Vogt Aurelie, Zhang Xijun, Boland Joseph, Yeager Meredith, Loud Jennifer T, Nathanson Katherine L, McGlynn Katherine A, Stratakis Constantine A, Greene Mark H, Mirabello Lisa
Abstract excerpt
Germline inactivating mutations of isoform 4 of phosphodiesterase (PDE) 11A (coded by the PDE11A gene) have been associated with familial adrenocortical tumors and familial testicular cancer. Testicular tissue is unique in expressing all four isoforms of PDE11A. In a prior candidate gene study of 94 familial testicular germ cell tumor (TGCT) subjects, we identified a significant association between the presence...
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