Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

ABSTRACT:

Background

Variant curation refers to the application of evidence-based methods for the interpretation of genetic variants. Significant variability in this process among laboratories affects clinical practice. For admixed Hispanic/Latino populations, underrepresented in genomic databases, the interpretation of genetic variants for cancer risk is challenging.

Methods

We retrospectively evaluated 601 sequence variants detected in patients participating in the largest Institutional Hereditary Cancer Program in Colombia. VarSome and PathoMAN were used for automated curation, and ACMG/AMP and Sherloc criteria were applied for manual curation.

Results

Regarding the automated curation, 11% of the variants (64/601) were reclassified, 59% (354/601) had no changes in its interp

SUBMITTER: Manotas MC 

PROVIDER: S-EPMC10178801 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature