Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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 

Original publication

DOI

10.1038/s42003-021-02990-6

Type

Journal article

Journal

Communications biology

Publication Date

01/2022

Volume

5

Addresses

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. jgd29@cam.ac.uk.

Keywords

NBCS Collaborators, CTS Consortium, ABCTB Investigators, kConFab/AOCS Investigators, Germ Cells, Humans, Breast Neoplasms, Risk Factors, Case-Control Studies, Genome, Human, Female, Genome-Wide Association Study, DNA Copy Number Variations