Ontology highlight
ABSTRACT:
SUBMITTER: Mesman RLS
PROVIDER: S-EPMC6752316 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Mesman Romy L S RLS Calléja Fabienne M G R FMGR Hendriks Giel G Morolli Bruno B Misovic Branislav B Devilee Peter P van Asperen Christi J CJ Vrieling Harry H Vreeswijk Maaike P G MPG
Genetics in medicine : official journal of the American College of Medical Genetics 20180710 2
<h4>Purpose</h4>Genetic testing has uncovered large numbers of variants in the BRCA2 gene for which the clinical significance is unclear. Cancer risk prediction of these variants of uncertain significance (VUS) can be improved by reliable assessment of the extent of impairment of the tumor suppressor function(s) of BRCA2.<h4>Methods</h4>Here, we evaluated the performance of the mouse embryonic stem cell (mESC)-based functional assay on an extensive set of BRCA2 missense variants.<h4>Results</h4> ...[more]