Copy number variants are ovarian cancer risk alleles at known and novel risk loci
(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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https://lup.lub.lu.se/record/5ceef21d-71e2-4fcc-88db-3e586d39dc5a
- author
- Devries, A.A. ; Olsson, H. LU and Jones, M.R.
- author collaboration
- organization
- publishing date
- 2022
- 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}}, }