Discordant Reporting of a Previously Undescribed Pathogenic Germline BRCA2 Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma

Abstract

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A commentary on the discrepancy between blood and tumour BRCA testing: An open question

“…This approach leads to the simultaneous identification of both constitutional and somatically acquired variants, with a shorter turnaround time: the identification of BRCA pathogenic variants (PVs) could lead to secondary ‘reflex’ germline BRCA (g BRCA ) testing in order to assess Personal and familial risks. In contrast, performing g BRCA as the first molecular test results in the loss of a relevant proportion of patients with tissue‐acquired BRCA PVs, in need of a follow‐up tumour test 2–4 …”

“…In contrast, performing gBRCA as the first molecular test results in the loss of a relevant proportion of patients with tissue-acquired BRCA PVs, in need of a follow-up tumour test. [2][3][4] In our opinion it is crucial to investigate the reliability of tBRCA in the identification of both somatic and germline variants. Inspired by Gourley's recently published commentary, 5 and taking into account that several troubling cases of discrepancy between blood and tBRCA testing have been reported, we have collected relevant recent studies covering the comparison between gBRCA and tBRCA to give a critical opinion about some shared key points of the somatic testing that could affect the final genotyping and reporting (Table 1).…”