Rare germline copy number variants (CNVs) and breast cancer risk
(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
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/921d587c-4ad3-4d31-bc07-d49a4b36e4c2
- author
- Dennis, Joe ; Olsson, H. LU and Easton, Douglas F.
- author collaboration
- organization
- publishing date
- 2022
- 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}}, }