Germline <i>EGFR</i> Mutations and Familial Lung Cancer.

ABSTRACT:

Purpose

The genomic underpinnings of inherited lung cancer risk are poorly understood. This prospective study characterized the clinical phenotype of patients and families with germline EGFR pathogenic variants (PVs).

Methods

The Investigating Hereditary Risk from T790M study (ClinicalTrials.gov identifier: NCT01754025) enrolled patients with lung cancer whose tumor profiling harbored possible germline EGFR PVs and their relatives, either in person or remotely, providing germline testing and follow-up.

Results

A total of 141 participants were enrolled over a 5-year period, 100 (71%) remotely. Based upon previous genotyping, 116 participants from 59 kindreds were tested for EGFR T790M, demonstrating a pattern of Mendelian inheritance with variable

SUBMITTER: Oxnard GR 

PROVIDER: S-EPMC12153668 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature