Short summary

The Confluence project is an international study in the CIMBA consortium in which a GWAS study will be conducted on a very large group of breast cancer patients. Results from CIMBA has led to methods that are now used clinically for better prediction of disease risk among patients with predisposition for hereditary cancer. OUH is PI for the West-Danish group in these studies and will continue to contribute to the important research. Several studies in CIMBA are led by our group.

Rationale

The Confluence project is an international study in which a GWAS study will be conducted on a very large group of breast cancer patients. The purpose is to clarify the genetic risk of breast cancer, ovarian cancer and prostate cancer. We will participate in the part of the project that deals with patients with inherited mutations in BRCA1 and BRCA2 as well as a number of other risk genes. Mutations in these genes cause a high lifetime risk of breast cancer and other cancers, but results from the CIMBA collaboration show that this risk is highly dependent on variations elsewhere in the genome. The CIMBA collaboration has thus led to the development of a polygenic risk score, which is now implemented in the BOADICEA software, which is used in all clinical genetic departments for risk assessment in families with suspected hereditary breast cancer.

Description of the cohort

The project includes approximately 3000 patients from Denmark except the capital region and more are continuously being added. All patients carry variants in cancer predisposing genes.

Data and biological material

Data in the project are clinical data such as diagnoses, pathology information, treatment, preventive surgeries, family information, follow-up data including recurrence and date of death. Biological samples includes blood and tumor samples.

Collaborating researchers and departments

Departments of Clinical Genetics and Molecular Genetics in Funen, Jutland and Region Zealand.

• Inge Søkilde Pedersen, Lise Lotte Christensen, Annabeth Høgh Pedersen