Next Generation Sequencing (NGS)-based BRCA tumour tissue testing poses several challenges. As a first step of its implementation within a regional health service network, an in-house validation study was compared with published recommendations.
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2020 (v1)PublicationUploaded on: April 14, 2023
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2023 (v1)Publication
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Uploaded on: February 4, 2024 -
2023 (v1)Publication
No description
Uploaded on: February 4, 2024 -
2024 (v1)Publication
Background: Universal screening of colorectal cancer (CRC) patients for Lynch syndrome (LS) through MisMatch Repair (MMR) testing is recommended. BRAF V600E mutation and/or MLH1 promoter methylation (Reflex Testing, RefT)generally rule out LS in MLH1-deficient (dMLH1) patients. We estimated the impact of RefTon genetic counseling (GC) and on...
Uploaded on: August 3, 2024