Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis

Affiliations

¹ Medicine A, University Medicine Greifswald, Greifswald, Mecklenburg-Vorpommern, Germany.
² Medicine A, University Medicine Greifswald, Greifswald, Mecklenburg-Vorpommern, Germany lerch@uni-greifswald.de.

Frank U Weiss et al. Gut. 2020.

. 2020 Sep 28:gutjnl-2020-322864.

doi: 10.1136/gutjnl-2020-322864. Online ahead of print.

¹ Medicine A, University Medicine Greifswald, Greifswald, Mecklenburg-Vorpommern, Germany.
² Medicine A, University Medicine Greifswald, Greifswald, Mecklenburg-Vorpommern, Germany lerch@uni-greifswald.de.

No abstract available

Keywords: genetic testing; pancreatitis; trypsin; trypsinogen.

Conflict of interest statement

Competing interests: None declared.

NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis.
Génin E, Cooper DN, Masson E, Férec C, Chen JM. Génin E, et al. Gut. 2022 Apr;71(4):841-842. doi: 10.1136/gutjnl-2021-324943. Epub 2021 May 7. Gut. 2022. PMID: 33963039 No abstract available.
Improved NGS variant calling tool for the PRSS1-PRSS2 locus.
Lou H, Xie B, Wang Y, Gao Y, Xu S. Lou H, et al. Gut. 2023 Jan;72(1):210-212. doi: 10.1136/gutjnl-2022-327203. Epub 2022 Mar 14. Gut. 2023. PMID: 35288441 No abstract available.