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)

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 usin...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867275/
https://www.ncbi.nlm.nih.gov/pubmed/33273034
http://dx.doi.org/10.1136/jmedgenet-2020-107353

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