Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
(2017) In Nature Genetics 49(12). p.1767-1778- Abstract
- Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16%... (More)
- Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer. (Less)
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- author
- Milne, Roger L ; Kuchenbaecker, Karoline B. ; Michailidou, Kyriaki ; Beesley, Jonathan ; Kar, Siddhartha ; Lindström, Sara ; Broberg, Per LU ; Olsson, Håkan LU and Ehrencrona, Hans LU
- organization
- publishing date
- 2017
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 49
- issue
- 12
- pages
- 12 pages
- publisher
- Nature Publishing Group
- external identifiers
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- pmid:29058716
- scopus:85035773185
- ISSN
- 1546-1718
- DOI
- 10.1038/ng.3785
- language
- English
- LU publication?
- yes
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- Export Date: 14 December 2017
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- 80e5ba7e-9962-4e62-806d-50d4dd989868
- date added to LUP
- 2017-12-14 14:58:24
- date last changed
- 2022-04-25 04:29:41
@article{80e5ba7e-9962-4e62-806d-50d4dd989868, abstract = {{Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.}}, author = {{Milne, Roger L and Kuchenbaecker, Karoline B. and Michailidou, Kyriaki and Beesley, Jonathan and Kar, Siddhartha and Lindström, Sara and Broberg, Per and Olsson, Håkan and Ehrencrona, Hans}}, issn = {{1546-1718}}, language = {{eng}}, number = {{12}}, pages = {{1767--1778}}, publisher = {{Nature Publishing Group}}, series = {{Nature Genetics}}, title = {{Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer}}, url = {{http://dx.doi.org/10.1038/ng.3785}}, doi = {{10.1038/ng.3785}}, volume = {{49}}, year = {{2017}}, }