A recent study published in the Journal of Clinical Oncology provides important insights into the prognostic role of pathogenic variants (PVs) in ATM, CHEK2, and PALB2 in breast, colorectal, and pancreatic cancer. The analysis, using SEER registry data from California and Georgia, examined over 70,000 patients and linked their diagnoses to germline genetic testing results. With a mean follow-up of 3.9 years, the findings suggest these PVs do not significantly impact cancer mortality.
The study found that patients with ATM, CHEK2, or PALB2 PVs had similar mortality rates to the average genetically tested patient with the same cancer type. While fixed-effects models suggested a higher mortality risk for ATM PVs in triple-negative breast cancer (HR, 3.7), this was not confirmed in random-effects models (HR, 1.2). Additionally, BRCA1/2 PVs were associated with lower mortality in triple-negative breast cancer, and Lynch syndrome gene PVs correlated with improved survival in colorectal cancer.
Acknowledgments to the expert authors: Christine M. Veenstra, Paul Abrahamse, Ann S. Hamilton, Kevin C. Ward, Scarlett L. Gomez, Lihua Liu, Steven J. Katz, Timothy P. Hofer, and Allison W. Kurian for their contributions to cancer genetics research.
For more details: https://lnkd.in/gEMs2gQN
