Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P?=?3.7E-18). Nine other genes were associated with a p-value?
View details for DOI 10.1038/s42003-021-02990-6
View details for PubMedID 35042965