Pathogenicity and Penetrance of Germline <i>SDHA</i> Variants in Pheochromocytoma and Paraganglioma (PPGL).

ABSTRACT: Germline SDHA mutations are reported in a minority of pheochromocytoma/paraganglioma (PPGL) cases but are associated with an increased risk of malignancy, leading some to advocate cascade genetic testing and surveillance screening of "at-risk" first-degree relatives. However, such approaches rely on accurate estimates of variant pathogenicity and disease penetrance, which may have been subject to ascertainment and reporting biases, although the recent provision of large population-based DNA sequence data sets may provide a potentially unbiased resource to aid variant interpretation. Thus, the aim of the current study was to evaluate the pathogenicity and penetrance of SDHA variants reported in literature-based PPGL cases by comparing their frequency to those occurring in the

SUBMITTER: Maniam P 

PROVIDER: S-EPMC6030830 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature