Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.

ABSTRACT:

Context

Cancer genetics is fundamental for preventive medicine, in particular in pheochromocytoma-associated syndromes. Variants in two susceptibility genes, SDHC and RET, were found in a kindred with head and neck paraganglioma. This observation of coincident DNA variants, both reported as pathogenic, in two known susceptibility genes prompted the question of their pathogenic relevance.

Objective

Our objective was to elucidate the pathogenic role of the detected variants and study the prevalence of such variants.

Patients

Patients were registrants from the European-American Pheochromocytoma-Paraganglioma and German von Hippel-Lindau Disease Registries.

Design

Analysis of germline mutation screening results for all pheochromocytoma-paraganglioma susceptibility

SUBMITTER: Erlic Z 

PROVIDER: S-EPMC2805484 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature