Scientists Discover Six New Genes Associated with Increased Cancer Risk
Scientists at decode genetics/Amgen, along with collaborators, have identified six novel genes with rare germline variants associated with cancer risk. Published in Nature Genetics under the title "Gene-based burden tests of rare germline variants identify six cancer susceptibility genes," the study provides new insights into genetic predispositions to cancer.
Certain cancers are linked to rare genetic variants inherited from birth, significantly increasing cancer risk. Discoveries of variants like those in the BRCA1 and BRCA2 genes have led to advancements in early detection and targeted therapies, which have improved outcomes for individuals with these mutations.
In this study, researchers analyzed genetic data from 130,991 cancer patients and 733,486 controls, all of European descent, across 22 cancer types. The gene-based burden analysis revealed four novel genes linked to higher cancer risks: BIK for prostate cancer, ATG12 for colorectal cancer, TG for thyroid cancer, and CMTR2 for both lung cancer and cutaneous melanoma. Variants in these genes increased cancer risk by 90% to 295%, although the study design limits accurate lifetime risk estimates.
Remarkably, the researchers also identified genes with rare variants associated with reduced cancer risk. Specifically, loss of AURKB was found to confer protection against various cancers, while loss of PPP1R15A was linked to a 53% reduction in breast cancer risk. This suggests PPP1R15A inhibition could serve as a potential therapeutic approach for breast cancer.
These findings shed light on the biological mechanisms of cancer susceptibility, paving the way for improved screening and treatment strategies.
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