Included below are two recent publications in which researchers have used data from the 1000 Genomes Project to study cancer.
In the first study, researchers use 1000 Genomes Project data to investigate the contribution of inherited risk factors for cancer. They find that genetic variants that cause inherited diseases are also more common in cancer patients compared to healthy individuals. In addition, the study results provide new strategies to understand cancer progression.
In the second study, researchers use 1000 Genomes Project data to study a type of genetic variation called tandem repeats in cancer. Tandem repeats are genetic variants where a small portion of the DNA sequence repeats many times. The researchers identify more than 2,000 of these tandem repeat genetic variants in 29 different types of cancer. This research also offers new potential cancer treatments that focus on these types of genetic variation.
For more information:
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes
Genome Medicine, 2023 | https://doi.org/10.1186/s13073-023-01252-w
Recurrent repeat expansions in human cancer genomes
Nature, 2023 | https://doi.org/10.1038/s41586-022-05515-1
