Article
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Journal of medical genetics - 1 Mar 2022
Hauke Jan, Harter Philipp, Ernst Corinna, Burges Alexander, Schmidt Sandra, Reuss Alexander, Borde Julika, De Gregorio Nikolaus, Dietrich Dimo, El-Balat Ahmed, Kayali Mohamad, Gevensleben Heidrun, Hilpert Felix, Altmüller Janine, Heimbach André, Meier Werner, Schoemig-Markiefka Birgid, Thiele Holger, Kimmig Rainer, Nürnberg Peter, Kast Karin, Richters Lisa, Sehouli Jalid, Schmutzler Rita K, Hahnen Eric
Abstract excerpt
Variant-specific loss of heterozygosity (LOH) analyses may be useful to classify BRCA1/2 germline variants of unknown significance (VUS). The sensitivity and specificity of this approach, however, remains unknown. We performed comparative next-generation sequencing analyses of the BRCA1/2 genes using blood-derived and tumour-derived DNA of 488 patients with ovarian cancer enrolled in the observational AGO-TR1...
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