Article
Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors.
Cancer research - 1 Nov 2000
Vortmeyer A O, Huang S C, Koch C A, Governale L, Dickerman R D, McKeever P E, Oldfield E H, Zhuang Z
Abstract excerpt
Endolymphatic sac tumors (ELSTs) occur sporadically or in association with an autosomal dominantly inherited tumor syndrome, von Hippel-Lindau (VHL) disease. In VHL disease, a germline mutation of the VHL tumor suppressor gene is inherited, and loss of function of the wild-type allele occurs through genetic deletion with subsequent development of neoplastic growth. Genetic alterations associated with sporadic...
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