| Title: | Rare variant analysis in cancer susceptibility |
| Lead Institution: | University of Pennsylvania |
| Principal investigator: | Dr Katherine Nathanson |
Application 69929
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About
Changes in and around genes can increase a person's chances of getting cancer. People have found some genetic changes that are associated with an increased chance of getting cancer. We would like to find more changes that increase a person's chance of getting cancer. We will mainly study people with breast, prostate and testicular germ cell tumors, and are also interested in the genetic changes related to other cancers. To find these changes, we need to look at large groups of people, which is highly useful when the changes in the genes are unusual. The data from the UK BioBank will make our research better because we can study the data on more people. Comparing people with and without cancer will show us the genetic changes that led to cancer in our studies. By finding genetic changes that lead to cancer, we can tell which individuals are at higher risk. People at higher risk may need more screening at earlier ages to find cancers sooner. The project will last for three years.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15951 | A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations | Anton Safonov (+26) | 2025 | Nature Communications |
Enabling scientific discoveries that improve human health