Breast cancer datasets sources | ELSI

BCAC: Breast Cancer Association Consortium

Our team manages the pathology, survival and treatment database of the Breast Cancer Association Consortium (BCAC), a large international data infrastructure and collaborative consortium.

B-CAST: Breast Cancer Stratification

We have established an image database containing tissue microarray images for 15 breast cancer markers from over 20,0000 patients, and generated DNA panel sequencing data for 10,000 patients within the B-CAST project.

Specific genetic, environmental and lifestyle factors increase the risk for breast cancer. It has been postulated that these risk factors together giving rise to distinct risk factor profiles increasing risk of particular subtypes of breast cancer. For example, presence of BRCA1 germline mutations predispose individuals to develop triple-negative breast tumours; risk factors such as a high body weight and use of hormones may also predispose to specific breast cancer subtypes.

B-CAST referring to the different subtypes of breast cancer and the need for further individualization or stratification of breast cancer prevention and treatment. In this project we aimed to better understand breast cancer risk profiles by combining genetic and lifestyle information, and linking these with prognosis. We also aimed to pioneer the development of subtype specific risk prediction models and improve an existing prognostication tool. This can enable more precise identification of women who would benefit from existing prevention and treatment strategies

We exploited and built upon existing resources, infrastructure and collaborations that had been established through the Breast Cancer Association Consortium (BCAC).

We expanded the number of breast cancer patients from ~100,000 to ~226,000 (from 107 studies worldwide).
We collected more complete and in-depth clinical and risk factor information.
We further developed the novel STRATUS algorithm to determine breast density based on mammograms.
We characterized over 25,000 tumours embedded in Tissue Micro Arrays using 15 different immunohistochemical markers.
We established an image management system including transfer, harmonization, and archiving of over 600,000 images.
We extracted DNA and RNA of 10,000 breast tumours.
We developed a breast cancer sequencing panel (including 323 genes, and relevant single nucleotide variants for linkage and detection of copy number aberrations), which we applied to the DNA from 10,000 tumours.

HEBON: Hereditary Breast and Ovarian cancer study Netherlands

The Hereditary Breast and Ovarian cancer study Netherlands (HEBON) is a national cohort including families with a hereditary predisposition to breast and ovarian cancer, primarily involving BRCA1/2 and other pathogenic variants. HEBON collects detailed clinical, epidemiological, and genetic data, as well as biological samples, from more than 27,000 participants across the Netherlands. Data linkages with national registries (such as the Netherlands Cancer Registry and PALGA) enable long-term follow-up on cancer incidence, prognosis, and survival. HEBON actively collaborates in international consortia, including IBCCS and CIMBA.

IBCCS: International BRCA1/2 Carrier Cohort Study

The International BRCA1/2 Carrier Cohort Study (IBCCS) is a large European collaboration following over 30,000 BRCA1/2 variant carriers to study genetic, lifestyle, and environmental factors that modify breast and ovarian cancer risk and outcomes. The Dutch HEBON study forms the national contribution to this international effort, providing a strong foundation for research on the causes, prognosis, and prevention of hereditary breast cancer.

Breast cancer is the most common cancer among women, and Europe reports some of the highest rates of cases in women under 50, considered early-onset breast cancer. The genetic and environmental factors driving these cases remain poorly understood. This gap in knowledge limits our options for prevention and treatment. The HER-CARE project, funded by the Marie Skłodowska-Curie Actions programme, aims to change this. By integrating genetics, molecular biology, imaging, and new technologies, such as AI and machine learning, the project will refine risk assessment and develop less invasive diagnostic tools. In addition, HER-CARE will train and mentor 15 doctoral researchers, who will work on personalised prevention and care strategies, improved genetic counselling, and reduction of misdiagnoses.

ELSI

Our national ‘ELSI servicedesk’ provides information and advice on ethical, legal, and social issues in precision medicine and health research to to researchers and other interested stakeholders. Resources, guidelines, and tools developed by our team are also available through this platform [link]. Furthermore, we are an active member of COREON, contributing to national discussions and developments in the responsible use of health data and materials.