Year of grant: 2020 Research Area: Heilsa Project type: Verkætlan Project title: At eyðmerkja ílegur, sum kunnu elva til bróstkrabba í Føroyum, og kanna sambandið hjá hesum ílegum við ávísar bróstkrabba biomarkørar. Grant number: 0351 Project manager: Noomi O. Gregersen Institution/company: Ílegusavnið Other participants: Professor Anna-Marie Axø Gerdes, Project period: Original: 01.05.2020 - 31.09.2021 Final: 01.08.2020-30.04.2022 Total budget: kr. 1.272.329 Grant from the FRC in DKK: kr. 847.572 Project description: Original Breast cancer is the most common cancer type and the leading cause of cancer-related deaths among women. Breast cancer is a heterogeneous disease, where both genetics and lifestyle factors are implicated in the aetiology. Especially, deleterious mutations in the BRCA1 and BRCA2 genes are leading causes of hereditary breast cancer. Currently, the Faroese Healthcare system has no routine screening program for breast cancer susceptibility genes in the Faroe Islands. Therefore, Faroese breast cancer patients are being genetic tested at the Rigshospitalet in Copenhagen, Denmark. To our knowledge no BRCA1 or BRCA2 mutations have been identified in the Faroese breast cancer patients so far. In order to develop an optimal diagnostic strategy for breast cancer and to move toward a more personalized clinical management of the disease in the Faroe Islands it is crucial to confirm the lack or presence of BRCA1 and BRCA2 mutations, as well as any breast cancer susceptibility genes in the Faroese population. The current proposal will explore the pathogenesis of breast cancer in the Faroese population. The goal is to identify breast cancer susceptibility genes and their correlation with predictive biomarker, such as estrogen receptor (ER) and the human epidermal growth factor receptor 2 (HER2). Further, by identifying founder mutations in combination with common genetic risk factors, a population specific strategy for mutation screening could be considered. Overall, the present project will bring the Faroese patients the needed access to molecular genetic diagnostics of their breast cancer, which will be of importance for their treatment and genetic counselling. Final The goal of the project was to identify breast cancer susceptibility genes and their correlation with predictive biomarker, such as estrogen receptor and the human epidermal growth factor receptor 2. The project comprised 44 consenting participants, all diagnosed with breast or ovarin cancer. Inclusion critera was age-of onset under 50 or/and family history of breast or ovarian cancer. We collected phenotypic data such as cancer subtype, receptor status, tumor malignancy grade, tumor size and genetic test from the patient´s electronic health records. Pedigrees for each participant was generated using the Legacy application. Whole-exome sequencing (WES) data was retrieved from the genetic Biobank of th Faroe Islands and the bioinformatic analyses was performed using the in-house developed LinkSeq pipeline. We investigate a panel of 122 breast cancer susceptibility genes and identified several high and moderate impact risk variants 15 of the selected genes. Most of the identified variants were missense variant and predicted to be either benign or likely benign by ClinVar. Previously reported BRCA1 and BRCA2 founder mutations in neighboring countries, such as Iceland, Norway, and Sweden were also investigated in the patient data, however, none of the variants passed the quality filters for a clinical setting. We have to stress that the whole-exome data used in this project was generated in a research setting and not in a clinical setting. Therefore it is very important to confirm the results using a different method as well as genomic DNA shuld be sequenced with a higher read-depth. The project presents the first insight into the genetic architecture of breast cancer in the Faroe Islands and will contribute to future gene-panels that should be offered to Faroese patients with heritary breast and ovarian cancer Project status: Liðug Project output: Two scientific articles in prep. All results will be freely available; therefore, the articles will be published via the Open Access policy. Publications outside the scientific community, i.e. lectures, periodicals, articles in newspapers, television and radio The project was presented at: - the Vísindavøka 2021 orginised by Granskingarráðið, at the University of the Faroe Islands - the “Granskingardagur” at the University of the Faroe Islands in August 2021 - the Association of the Nordic Cancer Registries virtual symposium in September 2021 << Back |
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