dc.contributor.author | Maguire, S | |
dc.contributor.author | Perraki, E | |
dc.contributor.author | Tomczyk, K | |
dc.contributor.author | Jones, ME | |
dc.contributor.author | Fletcher, O | |
dc.contributor.author | Pugh, M | |
dc.contributor.author | Winter, T | |
dc.contributor.author | Thompson, K | |
dc.contributor.author | Cooke, R | |
dc.contributor.author | kConFab Consortium, | |
dc.contributor.author | Trainer, A | |
dc.contributor.author | James, P | |
dc.contributor.author | Bojesen, S | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Mattson, J | |
dc.contributor.author | Friedman, E | |
dc.contributor.author | Laitman, Y | |
dc.contributor.author | Palli, D | |
dc.contributor.author | Masala, G | |
dc.contributor.author | Zanna, I | |
dc.contributor.author | Ottini, L | |
dc.contributor.author | Silvestri, V | |
dc.contributor.author | Hollestelle, A | |
dc.contributor.author | Hooning, MJ | |
dc.contributor.author | Novaković, S | |
dc.contributor.author | Krajc, M | |
dc.contributor.author | Gago-Dominguez, M | |
dc.contributor.author | Castelao, JE | |
dc.contributor.author | Olsson, H | |
dc.contributor.author | Hedenfalk, I | |
dc.contributor.author | Saloustros, E | |
dc.contributor.author | Georgoulias, V | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Pharoah, P | |
dc.contributor.author | Dunning, AM | |
dc.contributor.author | Bishop, DT | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Steele, L | |
dc.contributor.author | Ashworth, A | |
dc.contributor.author | Garcia Closas, M | |
dc.contributor.author | Houlston, R | |
dc.contributor.author | Swerdlow, A | |
dc.contributor.author | Orr, N | |
dc.date.accessioned | 2020-08-25T15:41:44Z | |
dc.date.issued | 2021-04-06 | |
dc.identifier.citation | Journal of the National Cancer Institute, 2020 | |
dc.identifier.issn | 0027-8874 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/4007 | |
dc.identifier.eissn | 1460-2105 | |
dc.identifier.doi | 10.1093/jnci/djaa101 | |
dc.description.abstract | BACKGROUND: The etiology of male breast cancer (MBC) is poorly understood. In particular, the extent to which the genetic basis of MBC differs from female breast cancer (FBC) is unknown. A previous genome-wide association study of MBC identified 2 predisposition loci for the disease, both of which were also associated with risk of FBC. METHODS: We performed genome-wide single nucleotide polymorphism genotyping of European ancestry MBC case subjects and controls in 3 stages. Associations between directly genotyped and imputed single nucleotide polymorphisms with MBC were assessed using fixed-effects meta-analysis of 1380 cases and 3620 controls. Replication genotyping of 810 cases and 1026 controls was used to validate variants with P values less than 1 × 10-06. Genetic correlation with FBC was evaluated using linkage disequilibrium score regression, by comprehensively examining the associations of published FBC risk loci with risk of MBC and by assessing associations between a FBC polygenic risk score and MBC. All statistical tests were 2-sided. RESULTS: The genome-wide association study identified 3 novel MBC susceptibility loci that attained genome-wide statistical significance (P < 5 × 10-08). Genetic correlation analysis revealed a strong shared genetic basis with estrogen receptor-positive FBC. Men in the top quintile of genetic risk had a fourfold increased risk of breast cancer relative to those in the bottom quintile (odds ratio = 3.86, 95% confidence interval = 3.07 to 4.87, P = 2.08 × 10-30). CONCLUSIONS: These findings advance our understanding of the genetic basis of MBC, providing support for an overlapping genetic etiology with FBC and identifying a fourfold high-risk group of susceptible men. | |
dc.format | Print-Electronic | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | OXFORD UNIV PRESS INC | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | kConFab Consortium | |
dc.title | Common Susceptibility Loci for Male Breast Cancer. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2020-07-10 | |
rioxxterms.versionofrecord | 10.1093/jnci/djaa101 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2020-08-12 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Journal of the National Cancer Institute | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.publication-status | Published | |
pubs.embargo.terms | Not known | |
icr.researchteam | Complex Trait Genetics | |
icr.researchteam | Functional Genetic Epidemiology | |
icr.researchteam | Aetiological Epidemiology | |
icr.researchteam | Cancer Genomics | |
dc.contributor.icrauthor | Perraki, Eleni | |
dc.contributor.icrauthor | Jones, Michael | |
dc.contributor.icrauthor | Fletcher, Olivia | |
dc.contributor.icrauthor | Houlston, Richard | |
dc.contributor.icrauthor | Swerdlow, Anthony | |