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Victor Moreno / Sonia Pernas
Catalan Institute of Oncology
DNA samples

Genome wide association studies (GWAS) have been successful in identifying over 180 common susceptibility loci for breast cancer. However, heritability analyses indicate that breast cancer is a highly polygenic disease with thousands of common genetic variants of small effects, and that increasing sample sizes will generate new discoveries. The Confluence project aims to build a large research resource of over 300,000 cases and 300,000 controls of different ancestries-doubling current sample sizes to study the genetic architecture of breast cancer.

This will be accomplished by the confluence of existing and new genome-wide genotyping data to be generated through this project. The specific aims of this project are: (1) to discover susceptibility loci and advance knowledge of etiology of breast cancer overall and by subtypes, (2) to develop polygenic risk scores and integrate them with known risk factors for personalized risk assessment for breast cancer overall and by subtypes, and (3) to discover loci for breast cancer prognosis, long-term survival, response to treatment, and second breast cancer. To be eligible to participate, studies with cases of in situ or invasive breast cancer (females or males) must have genome-wide genotyping data and/or germline DNA for genotyping, core phenotype data, and appropriate ethics approval for genetic studies and data sharing.

During September-December 2018, we reached out to potential studies through existing GWAS consortia and other means to request interest in participating in this project. We received an excellent response demonstrating the feasibility of reaching the target number of cases and controls. This large increase in sample size and diversity of populations will enable discoveries that will lead to a better understanding of the etiology of distinct breast cancer subtypes and the role of genetic variation in prognosis and treatment response, thus improving risk stratification, prevention, and clinical care of breast cancer across ancestry groups.

A subset of the GCAT participants will be included as controls within the MamaPrev study (MamaPrev: Epidemiología Genética y Prevención del Cáncer de Mama). The MamaPrev study will participate in the Breast Cancer Association Consortium (BCAC). This consortium is planning to collaborate in the Confluence Project, a research project funded by the National Cancer Institute (NCI) Intramural Research Program at the Division of Cancer Epidemiology and Genetics to build a large research resource for the scientific community by 2021, to study the genetic architecture of breast cancer.