Six New Genes Linked to Cancer Risk Discovered

Scientists at deCODE genetics/Amgen and collaborators have discovered six novel genes with rare germline variants that influence cancer risk, as published in Nature Genetics. The study analyzed genetic data from 130,991 cancer patients and 733,486 controls of European descent, covering 22 different cancer types. Four newly identified genes—BIK, ATG12, TG, and CMTR2—were found to increase cancer risk: BIK for prostate cancer, ATG12 for colorectal cancer, TG for thyroid cancer, and CMTR2 for both lung cancer and cutaneous melanoma. These variants conferred a substantial relative increase in cancer risk, ranging from 90% to 295%, though the study design does not provide precise absolute lifetime risk estimates.

In a significant advance, the researchers also identified two genes with rare variants that decrease cancer risk: loss of AURKB was found to protect against any cancer type, while loss of PPP1R15A was associated with a 53% lower risk of breast cancer. This suggests that targeting PPP1R15A could become a new therapeutic strategy for breast cancer prevention or treatment. The discoveries build on previous breakthroughs like BRCA1 and BRCA2, which have already transformed early cancer detection and targeted therapy.

By uncovering these new genes, the study provides deeper insight into the genetic mechanisms underlying cancer predisposition and protection. These findings could lead to improved genetic screening programs, better risk assessment, and more personalized prevention strategies. Ultimately, the research opens new avenues for therapeutic development and could help reduce the overall cancer burden through earlier detection and targeted interventions.