SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

ABSTRACT:

Purpose

To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and (3) in silico structural prediction analysis of missense substitutions in SDHA.

Patients and methods

A systematic literature review and a retrospective review of the molecular and clinical features of patients identified with putative germline variants in UK molecular genetic laboratories was performed. To evaluate the molecular consequences of SDHA missense variants, a novel model of the SDHA/B/C/D complex was generated and the structural effects of missense substitutions identified in the literature, our UK novel cohort and a further 32 "control missense variants" were predicted by the mCSM computa

SUBMITTER: Casey RT 

PROVIDER: S-EPMC5441402 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature