Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

2.50
Hdl Handle:
http://hdl.handle.net/11287/620509
Title:
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Authors:
Milne, R. L. [et al]; Brewer, Carole
Abstract:
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. 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.
Citation:
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. 2017 Oct 23. Nature Genetics
Publisher:
Nature
Journal:
Nature Genetics
Issue Date:
23-Oct-2017
URI:
http://hdl.handle.net/11287/620509
DOI:
10.1038/ng.3785
PubMed ID:
29058716
Additional Links:
http://dx.doi.org/10.1038/ng.3785
Type:
Journal Article
Language:
en
Appears in Collections:
Clinical Genetics (Peninsula Genetics); 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorMilne, R. L. [et al]en
dc.contributor.authorBrewer, Caroleen
dc.date.accessioned2017-11-15T14:12:45Z-
dc.date.available2017-11-15T14:12:45Z-
dc.date.issued2017-10-23-
dc.identifier.citationIdentification of ten variants associated with risk of estrogen-receptor-negative breast cancer. 2017 Oct 23. Nature Geneticsen
dc.identifier.pmid29058716-
dc.identifier.doi10.1038/ng.3785-
dc.identifier.urihttp://hdl.handle.net/11287/620509-
dc.description.abstractMost common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. 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.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/ng.3785en
dc.rightsArchived with thanks to Nature Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleIdentification of ten variants associated with risk of estrogen-receptor-negative breast canceren
dc.typeJournal Articleen
dc.identifier.journalNature Geneticsen
dc.type.versionIn press (epub ahead of print)en

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.