Heilsa - Sjúkrakassagrunnurin
Identifying breast cancer susceptibility genes in the Faroese population and its relation to hereditary breast-ovarian cancer syndrom
Noomi Oddmarsdóttir Gregersen
Eyðfinn Olsen, Michael Bjørn Petersen, Charlotte Kvist Lautrup, Allan T. Højland, Vang Q. Lee, Anne-Marie Gerder, Janus Vang, Hans Atli Dahl, Meinhard Ortind
Stuðul úr Granskingargrunninum:
Worldwide, 5%-10% of breast cancer cases and 10-15% of all ovarian cancer cases are hereditary and are caused by pathogenic mutations in susceptibility genes such as BRCA1 and BRCA2. It is recognized that mutation spectrum of breast cancer genes differs between countries and ethnic groups. This has been shown in most neighbouring countries of the Faroe Islands. However, even though the penetrance of breast cancer is mostly the same in the Faroe Islands as in the neighbouring countries, knowledge of the contribution of breast cancer susceptibility genes to the aetiology of Faroese breast cancer patients is limited.
The aim of this study is to identify breast cancer susceptibility genes in the Faroese population in order to develop an optimal diagnostic strategy for breast cancer in the Faroe Islands. We will perform 1) whole- exome sequencing of 50 Faroese patients with breast cancer, 2) compare them with 200 healthy individuals from the Faroe Islands, 3) perform association analyses of specific breast cancer susceptibility genes, and 4) validate susceptibility variants in family members of the breast cancer patients.
This study will add knowledge to the genetic variants of breast cancer genes among the Faroes people and bring forward needed information to develop an optimal screening protocol for breast cancer in the Faroe Islands.