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David S. Ettinger, MD, FACP, FCCP


Pathogenic Germline Variants in Patients With Lung Cancer

By: Joseph Fanelli
Posted: Tuesday, August 30, 2022

Findings presented at the ASCO Plenary Series (Abstract 388570), revealed that nearly 15% of a large cohort of individuals with lung cancer had pathogenic germline variants, meaning they and their family members are at an increased risk of other cancers. Steven Sorscher, MD, of Wake Forest University School of Medicine, Winston-Salem, North Carolina, and colleagues noted that recently the National Comprehensive Cancer Network recommended germline testing be considered for all patients with colorectal cancer. “Given the profound implications for both patients and their families that result from identifying pathogenic germline variants, our results suggest that all patients with lung cancer also be considered for germline genetic testing,” the investigators stated.

The authors reviewed data from 7,788 individuals diagnosed with lung cancer who underwent germline DNA sequencing and exon-level copy number analysis between 2014 and 2022. Most of the cohort had a history of more than one cancer diagnosis (71.1%).

The authors identified 1,503 pathogenic germline variants in 81 known cancer-risk genes in 1,161 patients (14.9%). In addition, 229 patients (2.9%) carried a single pathogenic germline variant in a gene associated with autosomal-recessive inheritance. The most common variants were BRCA2 (2.8%), CHEK2 (2.1%), ATM (1.9%), TP53 (1.3%), BRCA1 (1.2%), and EGFR (1.0%).

Of the individuals with pathogenic germline variants detected, 712 (61.3%) had a variant in a DNA damage response and repair/homologous recombination repair gene. This makes those individuals eligible for a clinical treatment trial. Almost all subjects with pathogenic germline variants had variants that were considered potentially clinically actionable.

Disclosure: For full disclosures of the study authors, visit

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