Article
Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.
The Journal of molecular diagnostics : JMD - 1 Sept 2018
de Jonge Marthe M, Ruano Dina, van Eijk Ronald, van der Stoep Nienke, Nielsen Maartje, Wijnen Juul T, Ter Haar Natalja T, Baalbergen Astrid, Bos Monique E M M, Kagie Marjolein J, Vreeswijk Maaike P G, Gaarenstroom Katja N, Kroep Judith R, Smit Vincent T H B M, Bosse Tjalling, van Wezel Tom, van Asperen Christi J
Abstract excerpt
BRCA1/2 variant analysis in tumor tissue could streamline the referral of patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer to genetic counselors and select patients who benefit most from targeted treatment. We investigated the sensitivity of BRCA1/2 variant analysis in formalin-fixed, paraffin-embedded tumor tissue using a combination of next-generation sequencing and copy number...
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