| Title: | Germline genetic, socioeconomic and medical risk factors of tumorigenesis |
| Lead Institution: | University of Helsinki |
| Principal investigator: | Dr Kimmo Palin |
Application 80756
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About
We will study genetic and environmental predisposition of colorectal cancer(CRC), Uterine Leiomyomas (UL; fibroids) and other tumor types. Colorectal cancer is the third most common cancer with almost 2 million new cases and a million deaths per year worldwide. Uterine leiomyoma is the most common clinically significant human tumor type which, while non-lethal, affects up to 70% of women at some point of their life causing heavy and painful periods. Currently there are very limited treatment options for UL, with surgical hysterectomy being common, and only curative, treatment. CRC, UL and many other tumor types have previously been associated with both genetic and environmental risk factors such as nutritional practices, physical activity, cigarette smoking, alcohol consumption and many non-neoplastic diseases. Our aim is to find genetic variants that interact with the environmental factors to modify risk of tumorigenesis in an individual. We will utilize e.g Finnish Cancer Registry and Hospital Discharge Registry to find potential interacting environmental risk factors, and use our extensive collection of CRC and UL tumor/normal pairs to find potential genetic variants possibly associated with specific tumor subtypes. These potential gene-environment interactions we will confirm in UKBB. The same process will also be done in reverse, finding interactions in UKBB and using Finnish genetic and registry data as replication. The project will last 3 years and can have potential to discover novel genes and metabolic paths leading to tumorigenesis. Especially Uterine Leiomyoma, benign tumor affecting exclusively women, is under researched and lack safe and effective treatments and any progress will have huge effect on women's health.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 11071 | Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas | Niko Välimäki (+13) | 2023 | American Journal of Human Genetics |
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