Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism.

ABSTRACT:

Purpose

Enabled by advancements in next-generation sequencing for hereditary cancer conditions, low allele frequency variants (LAFV) are detected by testing laboratories. This study describes the frequency and clinical factors associated with LAFVs and reports results of follow-up testing when available.

Experimental design

This retrospective study analyzed LAFV cases identified through multi-gene panel testing (MGPT) at a single high-volume germline genetic testing laboratory. LAFVs were defined as variant allele frequencies (VAF) between 10% and 30% as confirmed by Sanger sequencing. Comparative analyses were conducted between pathogenic variants with a VAF of 30% to 60% (inferred heterozygous) and LAFV cohorts. Clinical characteristics were analyzed using descriptive stat

SUBMITTER: Rodriguez-Hernandez A 

PROVIDER: S-EPMC12209816 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature