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

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

Description of the granted funding

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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Starting year

2021

End year

2024

Granted funding

Tuomo Mantere Orcid -palvelun logo
295 789 €

Funder

Research Council of Finland

Funding instrument

Postdoctoral Researcher

Other information

Funding decision number

338374

Fields of science

Genetics, developmental biology, physiology

Research fields

Perinnöllisyystiede

Identified topics

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