Rate of Pathogenic Germline Variants in Patients With Lung Cancer.

Steven Mark SorscherJaclyn LoPiccoloBrandie H LeachElaine ChenRobert L NussbaumScott T MichalskiSarah M Nielsen Alix M B LacosteEmil KeyderHayan Lee Robert Luke Nussbaum Renato G Martins Edward D Esplin

Published in: JCO precision oncology (2023)

This retrospective study shows a LC diagnosis identifies patients with a significant likelihood of having a cancer-predisposing PGV across genomic ancestries. Enrichment of PGVs in DDR genes suggests that these PGVs may contribute to LC cancer predisposition. The frequency of PGVs among patients with LC did not differ significantly according to FH or PH of other cancers.

Keyphrases

papillary thyroid
simultaneous determination
squamous cell
genome wide
copy number
mass spectrometry
childhood cancer
gene expression
young adults
transcription factor
high resolution
solid phase extraction