| Title: | Using UKBB As a Reference Control Population for Genetic Cancer Predisposition |
| Lead Institution: | Mayo Clinic |
| Principal investigator: | Dr Steven Hart |
Application 65898
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About
We propose to use genetic information from the UK Biobank to determine if inherited genetic alterations in genes cause an increase in the risk of breast cancer. In Aim 1 we will compare how many times alterations are seen in breast cancer patients and in the UK Biobank participants. In Aim 2 we will compare how many times variants of uncertain significance (VUS) in established breast cancer genes are seen in breast cancer patients and in the UK Biobank participants in order to show which VUS cause cancer. The genetic information from our own breast cancer patients is already available so once UK Biobank information is available we expect to complete the project in 2 years. This project has significant potential public health impact because the results can be used to identify the women who are at increased risk of breast cancer before they develop these cancers. Early warning of increased risk may lead to early detection of cancers, which can result in improved survival.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 14552 | Functional evaluation and clinical classification of BRCA2 variants | Huaizhi Huang (+24) | 2025 | Nature |
Enabling scientific discoveries that improve human health