2024 World Conference on Lung Cancer (WCLC) - ePosters-EP.01D.02 Heterogeneous Germline Variants Detected in EGFR-Mutant Familial Lung Cancer Patients and Family Members

EP.01D.02 Heterogeneous Germline Variants Detected in EGFR-Mutant Familial Lung Cancer Patients and Family Members

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The management of familial lung cancer, particularly among patients with a family history, has become an increasingly significant clinical need. Patients with familial lung cancer tend to exhibit certain clinical features, such as a higher likelihood of being non-smokers and testing positive for driver gene mutations. Recent research has focused on the presence of germline EGFR mutations in these patients. This study aims to expand our understanding by analyzing the broader germline characteristics of patients with EGFR-mutant familial lung cancer.<br /><br />The study conducted at Guangdong Provincial People’s Hospital involved both retrospective and prospective approaches. In the retrospective cohort, 110 EGFR-mutant lung cancer patients with a family cancer history were analyzed. Key findings included that most patients were female, never-smokers, and had multiple lung nodules. Predominantly, patients had a family history of lung cancer, with smaller percentages having histories of liver, colon, and breast cancer. Germline variants that were either pathogenic or likely pathogenic were identified, primarily affecting DNA repair genes such as FANCI and PALB2.<br /><br />The prospective cohort included 25 individuals from families with aggregated cases of EGFR-mutant lung cancer. Whole exome sequencing of peripheral blood revealed likely pathogenic variants in several DNA repair genes and others involved in metabolic pathways. Novel nonsynonymous germline mutations in EGFR exons were also identified.<br /><br />These findings suggest heterogeneity in germline variants among EGFR-mutant familial lung cancer patients, potentially indicating a unique hereditary pattern involving multiple genetic predispositions. Such insights could guide future investigations and treatment strategies for addressing this complex clinical challenge.

Asset Subtitle

Yi-Chen Zhang

Meta Tag

Speaker Yi-Chen Zhang

Topic Risk Factors, Risk Reduction & Tobacco Control

Keywords

familial lung cancer

EGFR mutations

germline variants

non-smokers

DNA repair genes

FANCI

PALB2

whole exome sequencing

hereditary pattern

genetic predispositions