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Article

The functional impact of variants of uncertain significance in BRCA2.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

Mesman Romy L S, Calléja Fabienne M G R, Hendriks Giel, Morolli Bruno, Misovic Branislav, Devilee Peter, van Asperen Christi J, Vrieling Harry, Vreeswijk Maaike P G

Abstract excerpt

PURPOSE: 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. METHODS: Here, we evaluated the performance of the mouse embryonic stem cell (mESC)-based...

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Identifiers

PMID: 29988080
DOI: 10.1038/s41436-018-0052-2
PMCID: PMC6752316

Genes

BRCA2

Variants

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