Ílegukanningar fyri bróstkrabba í Føroyum
Katrin Eivindsdóttir Danielsen
Dr. Noomi O. Gregersen
01/01/2022 - 01/01/2023
Stuðul úr Granskingargrunninum:
Breast cancer is the leading type of cancer in Faroese women, and the leading cause of cancer related deaths worldwide. Breast cancer is a multifactorial disease with known genetic factors accounting for approximately 5-10%, of those up to 30% have been reported to be due to BRCA1 and BRCA2 mutations. A proportion of ovarian cancers can also be explained by genetic factors. Many other breast cancer susceptibility genes have been identified and their prevalence and existence differ among different populations. Genetic studies have shown that the Faroese gene pool differs from our closest neighbours. Several families have been identified in the Faroe Islands with a strong family history of breast and ovarian cancer, and while no standard procedures regarding genetic screening are in place, some of these women have gone through genetic testing for breast and ovarian cancer susceptibility genes in Denmark. To our knowledge this has not led to any findings. The main objective of this project is to develop a novel breast and ovarian cancer gene panel that is tailored to the Faroese population. We will do this using small molecule- molecular inversion probes (smMIP), a method that has been set up in the Faroe Islands. Molecular inversion probes will be designed towards all regions of interest where variations have been found in the HBOC project, where whole-exome sequencing of Faroese patients was performed to come up with a list of breast and ovarian cancer susceptibility genes and variations. A Faroese breast and ovarian cancer gene panel will give Faroese patients with hereditary breast and ovarian cancer access to molecular genetic diagnosis and will enable sought after genetic counselling.
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