| Title: | Genome Wide Association Studies of Colorectal Cancer, Uterine Leiomyoma and Other Tumor Types |
| Lead Institution: | University of Helsinki |
| Principal investigator: | Dr Kimmo Palin |
Application 32506
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About
We will study genetic germline predisposition for colorectal cancer, Uterine Leiomyomas (fibroids) and other tumor types in order to find rare (and common) variants associated with tumor predisposition. We expect to discover, and validate previously suggested, rare, medium penetrant, genetic variants and risk genes by using genotype imputation from modest number of cases and large number of population matched controls. The research will improve the prevention and diagnosis of malignant and benign neoplasms, especially Colorectal Cancer and Uterine Leiomyoma. We have access to patient information and archival tissue of all cancers diagnosed in Finland since 1953 and are able to obtain candidate risk variants for any strongly spatially or familialy clustered tumor type (e.g. Kaasinen, PlosOne 2013; Aavikko, Journal of Infectious Diseases 2015). As most tumor types are rare, we would use large UK Biobank cohort to validate the candidate variants in independent population. For common tumors, Colorectal Cancer and Uterine Leiomyoma, we have modest set of samples allowing genome wide discovery of candidate risk variants (1700 and 450 cases and 15,000 controls) full cohort2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 10039 | Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma | Davide G. Berta (+26) | 2021 | Nature |
| 8567 | Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability | Niko Välimäki (+17) | 2018 | eLife |
Enabling scientific discoveries that improve human health