Sequential tumor molecular profiling identifies likely germline variants.

ABSTRACT:

Purpose

To identify likely germline DNA variants from sequential tumor profiling data from hematopoietic malignancies (HMs).

Methods

The coefficient of variance was calculated from variant allele frequency of next-generation sequencing assays. Variants' likelihood of being germline was ranked on a 1 to 5 scale. Outcomes were examined in patients with such variants.

Results

In a pilot set of 33 genes, 89% of grade 1, 77% of grade 2, 62% of grade 3, 52% of grade 4, and 21% of grade 5 variants were confirmed to be germline. Among those, 22% were pathogenic or likely pathogenic in genes recognized as conferring hereditary HM risk, including BRCA1/2, CHEK2, CSF3R, and DDX41. To determine if this approach identified genes with known autosomal dominant inheritance, we analyz

SUBMITTER: Kraft IL 

PROVIDER: S-EPMC11401608 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature