| Title: | Cancer Genetics Variant Interpretation and Gene Discovery |
| Lead Institution: | Institute of Cancer Research |
| Principal investigator: | Professor Clare Turnbull |
Application 76689
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About
Identifying people who are inherently at increased risk of developing cancer may lead to better standards of care through enhanced screening and treatment options. We plan to use the genetic data within UK Biobank to look for changes in genes that are more common in people with cancer compared to healthy individuals, assisted by merging the data with various in-house and external genetic and other data. These data will contribute to the activities of and be shared via CanGene-CanVar, a 5 year, 4.3 million Cancer Research UK Catalyst award program.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 13584 | Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) | Isaac Wade (+10) | 2024 | Genetics in Medicine |
Enabling scientific discoveries that improve human health