Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.

ABSTRACT: Next-generation sequencing (NGS) is used increasingly in hereditary cancer patients' (HCP) management. While enabling evaluation of multiple genes simultaneously, the technology brings to light the dilemma of variant interpretation. Here, we aimed to reveal the underlying reasons for the discrepancy in the evidence titles used during variant classification according to ACMG guidelines by two different bioinformatic specialists (BIs) and two different clinical geneticists (CGs). We evaluated final reports of 1920 cancer patients and 189 different variants from 285 HCP were enrolled to the study. A total of 173 of these variants were classified as pathogenic (n = 132) and likely pathogenic (n = 41) by the BI and an additional 16 variants, that were classified as VUS by at least one interpret

SUBMITTER: Agaoglu NB 

PROVIDER: S-EPMC8904571 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature