Seoul National University Hospital study finds genetic variants in 7.9% of lung cancer patients

A joint research team from Seoul National University Hospital and National Jewish Health has released a meta-analysis revealing that approximately 7.9% of lung cancer patients possess germline pathogenic variants that may contribute to cancer development.

The study, which synthesized 28 lung cancer-related research papers, found that these variants are primarily located in genes related to DNA damage repair. The most prevalent genes identified were BRCA2 (0.96%), ATM (0.67%), TP53 (0.57%), CHEK2 (0.49%), and BRCA1 (0.48%).

There is a significant disparity in prevalence based on clinical characteristics. High-risk groups—defined by family history of lung cancer, onset at a younger age, or multiple primary lung cancers—showed a prevalence rate of 32.3%, compared to only 4.7% in non-screened patient groups. The research also noted that mutations in major DNA damage repair genes were more common in non-Asian and mixed-race populations than in East Asians.

Researchers stated that these findings provide foundational data for considering customized genetic evaluations for high-risk patients, potentially aiding in cancer prevention and early diagnosis for both patients and their families. The study was published online in the Journal of Thoracic Oncology.