Some cancers occur in people born with rare gene sequences that significantly increase their risk of disease. The discovery of variants in the BRCA1 and BRCA2 genes has led to advances in the early detection of cancer and the development of targeted therapies, which have reduced the cancer burden and improved prognosis for carriers of these mutations.
In this study, researchers analyzed three large genetic data sets from people of European descent, including 130,991 cancer patients and 733,486 controls. By analyzing gene associations with 22 different types of cancer, four new genes were found to be associated with cancer risk: pro-apoptotic gene BIK for prostate cancer, autophagy-related gene ATG12 for colorectal cancer, TG gene and CMTR2 for thyroid cancer. lung cancer and skin melanoma gene.
The increase in cancer risk due to these variants is 90−295%, but it should be noted that the study design did not allow accurate estimates of absolute lifetime cancer risk.
Researchers also found genes with rare variants associated with reduced cancer risk. Specifically, loss of AURKB protects against all types of cancer, and loss of PPP1R15A is associated with a 53% reduction in breast cancer risk. This discovery may lead to new treatment options for treating breast cancer.
Source: Ferra
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