Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes.

ABSTRACT:

Background

Although the process of reclassification of a variant of uncertain significance can be complex, they are commonly detected through molecular testing. It often takes years before enough clinical data are acquired, and it can be costly and time-consuming to perform functional analysis of a single variant. It is important that other tools are developed to aid in clarifying how a specific genetic variant impacts a protein's function, and ultimately the health of the patient.

Methods

Two more newly characterized, suspected pathogenic variants in NBN and PTEN were analyzed through personalized protein modeling. Comparisons between the wild-type and altered protein were studied using simulations, genomic exome analysis, and clinic study.

Results

Modeling of the ne

SUBMITTER: Macklin S 

PROVIDER: S-EPMC6160717 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature