Could Your Genes Be Hiding a Lung Cancer Risk?

Lung cancer is often associated with smoking, but what if there’s more to the story? A groundbreaking study led by Dr. Ed Esplin, a Clinical Geneticist at Invitae, reveals that genetic factors play a significant role in lung cancer susceptibility, irrespective of smoking history. This research, which was presented at the 2024 American Society of Clinical Oncology (ASCO) Annual Meeting in Chicago, has far-reaching implications for how we understand, screen, and prevent lung cancer. Uncovering Hidden Genetic Risks Current clinical guidelines do not recommend germline testing for patients with lung cancer. Dr. Esplin’s study, which analyzed a cohort of over 14,000 lung cancer patients, reaffirmed the high rate of pathogenic germline variants (PGVs), with over 12 percent of patients having these genetic changes. This finding mirrors results from two prior studies (Samadder et al., JAMA Onc 2020; Sorscher et al., JCO Precision Oncology 2023). The PGV rate in lung cancer patients is similar to that found in patients with breast, ovarian, pancreatic, and colorectal cancers, for which clinical practice guidelines already recommend germline genetic testing. What Are Pathogenic Germline Variants? Pathogenic germline variants (PGVs) are inherited genetic mutations that can increase your risk of developing certain types of cancer. These...