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).
Visa merStartår
2021
Slutår
2024
Beviljade finansiering
Finansiär
Finlands Akademi
Typ av finansiering
Forskardoktorer
Utlysning
Övriga uppgifter
Finansieringsbeslutets nummer
338374
Vetenskapsområden
Genetik, utvecklingsbiologi, fysiologi
Forskningsområden
Perinnöllisyystiede
Identifierade teman
cancer