Beyond point mutations – implementing optical mapping technology for high-resolution structural variant detection in hereditary breast cancer and unsolved genomic disorders

Bidragets beskrivning

Breast cancer is the most common cancer among women and the contribution of hereditary predisposition to its development has been well recognized. However, the known genetic risk factors explain less than half of the familial risk of the disease, strongly indicating that additional predisposing genes exist. Unraveling these is important for the identification of high-risk individuals and understanding the mechanisms that contribute to the disease development. This may lead to improvements in diagnostics and targeted therapies. Here, DNA-samples from northern Finnish breast cancer patients are studied in order to identify novel predisposing genes and variants. For this, novel genomic technology that is highly efficient in detecting structural genetic variation is established. In addition, this technology will be used to study patients with unsolved rare genetic disorders and cancer samples. Research is conducted at the Laboratory of Cancer Genetics and Tumor Biology (Biocenter Oulu).
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Startår

2021

Slutår

2024

Beviljade finansiering

Tuomo Mantere Orcid -palvelun logo
295 789 €

Finansiär

Finlands Akademi

Typ av finansiering

Forskardoktorer

Övriga uppgifter

Finansieringsbeslutets nummer

338374

Vetenskapsområden

Genetik, utvecklingsbiologi, fysiologi

Forskningsområden

Perinnöllisyystiede

Identifierade teman

cancer