Studying Cancer


In the first study, scientists used 1000 Genomes Project data to study inherited risk for breast cancer. The authors investigated a genetic region that was previously implicated in breast cancer and identified a new genetic risk mutation. They found that the mutation impacts a nearby tumor suppressor gene called CDKN2A. Mutations in the CDKN2A gene have been previously found in approximately 20% of patients with breast cancer, and this study describes a new way in which this gene may be controlled.

In the second study, scientists used 1000 Genomes Project samples and data to develop and validate a new clinical genetic test. This test is designed to identify which prostate and breast cancer patients may benefit from a type of supplemental cancer treatment called antioxidant therapy. Antioxidant therapy is thought to support the immune system and slow cancer progression. The test has been used for patients with prostate and breast cancer in several clinical trials.

For more information:

He, G., Liu, S., Shi, X., Chen, Y., Su, L., Shi, Q., & Sun, C. (2023). rs77283072 influences breast cancer susceptibility by regulating CDKN2A expression. Oncology Letters, 25, 76. 

Debeljak, M., Riel, S., Lin, M.-T., Eshleman, J. R., & Paller, C. J. (2022). Analytical Validation of SOD2 Genotyping.  Methods and Protocols6(1), 4. mps6010004

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