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Rare germline copy number variants (CNVs) and breast cancer risk

Dennis, Joe ; Olsson, H. LU orcid and Easton, Douglas F. (2022) In Communications Biology 5(1).
Abstract
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
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author
; and
author collaboration
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
breast tumor, case control study, copy number variation, female, genetics, genome-wide association study, germ cell, human, human genome, risk factor, Breast Neoplasms, Case-Control Studies, DNA Copy Number Variations, Female, Genome, Human, Genome-Wide Association Study, Germ Cells, Humans, Risk Factors
in
Communications Biology
volume
5
issue
1
article number
65
publisher
Nature Publishing Group
external identifiers
  • scopus:85123568103
  • pmid:35042965
ISSN
2399-3642
DOI
10.1038/s42003-021-02990-6
language
English
LU publication?
yes
id
921d587c-4ad3-4d31-bc07-d49a4b36e4c2
date added to LUP
2022-08-02 11:01:41
date last changed
2022-08-03 03:00:03
@article{921d587c-4ad3-4d31-bc07-d49a4b36e4c2,
  abstract     = {{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}},
  author       = {{Dennis, Joe and Olsson, H. and Easton, Douglas F.}},
  issn         = {{2399-3642}},
  keywords     = {{breast tumor; case control study; copy number variation; female; genetics; genome-wide association study; germ cell; human; human genome; risk factor; Breast Neoplasms; Case-Control Studies; DNA Copy Number Variations; Female; Genome, Human; Genome-Wide Association Study; Germ Cells; Humans; Risk Factors}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Communications Biology}},
  title        = {{Rare germline copy number variants (CNVs) and breast cancer risk}},
  url          = {{http://dx.doi.org/10.1038/s42003-021-02990-6}},
  doi          = {{10.1038/s42003-021-02990-6}},
  volume       = {{5}},
  year         = {{2022}},
}