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Copy number variants are ovarian cancer risk alleles at known and novel risk loci

Devries, A.A. ; Olsson, H. LU orcid and Jones, M.R. (2022) In Journal of the National Cancer Institute 114(11). p.1533-1544
Abstract
Background: Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort. Methods: Single nucleotide polymorphism array data from 13071 EOC cases and 17306 controls of White European ancestry were used to identify CNVs associated with EOC risk using a rare admixture maximum likelihood test for gene burden and a by-probe ratio test. We performed enrichment analysis of CNVs at known EOC risk loci and functional biofeatures in ovarian cancer-related cell types. Results: We identified statistically significant risk associations with CNVs at known EOC risk genes; BRCA1 (PEOC = 1.60E-21;... (More)
Background: Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort. Methods: Single nucleotide polymorphism array data from 13071 EOC cases and 17306 controls of White European ancestry were used to identify CNVs associated with EOC risk using a rare admixture maximum likelihood test for gene burden and a by-probe ratio test. We performed enrichment analysis of CNVs at known EOC risk loci and functional biofeatures in ovarian cancer-related cell types. Results: We identified statistically significant risk associations with CNVs at known EOC risk genes; BRCA1 (PEOC = 1.60E-21; OREOC = 8.24), RAD51C (Phigh-grade serous ovarian cancer [HGSOC] = 5.5E-4; odds ratio [OR]HGSOC = 5.74 del), and BRCA2 (PHGSOC = 7.0E-4; ORHGSOC = 3.31 deletion). Four suggestive associations (P (Less)
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type
Contribution to journal
publication status
published
subject
in
Journal of the National Cancer Institute
volume
114
issue
11
pages
12 pages
publisher
Oxford University Press
external identifiers
  • scopus:85157958594
  • pmid:36210504
ISSN
0027-8874
DOI
10.1093/jnci/djac160
language
English
LU publication?
yes
id
5ceef21d-71e2-4fcc-88db-3e586d39dc5a
date added to LUP
2023-11-09 17:28:01
date last changed
2023-11-10 03:00:04
@article{5ceef21d-71e2-4fcc-88db-3e586d39dc5a,
  abstract     = {{Background: Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort. Methods: Single nucleotide polymorphism array data from 13071 EOC cases and 17306 controls of White European ancestry were used to identify CNVs associated with EOC risk using a rare admixture maximum likelihood test for gene burden and a by-probe ratio test. We performed enrichment analysis of CNVs at known EOC risk loci and functional biofeatures in ovarian cancer-related cell types. Results: We identified statistically significant risk associations with CNVs at known EOC risk genes; BRCA1 (PEOC = 1.60E-21; OREOC = 8.24), RAD51C (Phigh-grade serous ovarian cancer [HGSOC] = 5.5E-4; odds ratio [OR]HGSOC = 5.74 del), and BRCA2 (PHGSOC = 7.0E-4; ORHGSOC = 3.31 deletion). Four suggestive associations (P}},
  author       = {{Devries, A.A. and Olsson, H. and Jones, M.R.}},
  issn         = {{0027-8874}},
  language     = {{eng}},
  number       = {{11}},
  pages        = {{1533--1544}},
  publisher    = {{Oxford University Press}},
  series       = {{Journal of the National Cancer Institute}},
  title        = {{Copy number variants are ovarian cancer risk alleles at known and novel risk loci}},
  url          = {{http://dx.doi.org/10.1093/jnci/djac160}},
  doi          = {{10.1093/jnci/djac160}},
  volume       = {{114}},
  year         = {{2022}},
}