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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
- Source :
- Nature Genetics, 48(4), 374-386. Nature Publishing Group, Nature Genetics, 48(4), 374, Dunning, A M, Michailidou, K, Kuchenbaecker, K B, Thompson, D J, French, J D, Beesley, J, Healey, C S, Kar, S, Pooley, K A, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, N A, Sallari, R C, Hillman, K M, Kaufmann, S, Sivakumaran, H, Moradi Marjaneh, M, Lee, J S, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, M K, Dennis, J, Wang, Q, Hopper, J L, Southey, M C, Broeks, A, Schmidt, M K, Lophatananon, A, Muir, K, Beckmann, M W, Fasching, P A, Dos Santos Silva, I, Peto, J, Sawyer, E J, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, S E, Flyger, H, González-Neira, A, Perez, J I A, Shen, C-Y, Hansen, T V O, Bojesen, A, Thomassen, M & EMBRACE 2016, ' Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 ', Nature Genetics, vol. 48, no. 4, pp. 374-386 . https://doi.org/10.1038/ng.3521, Nature Genetics, 48(4), 374-+. Nature Publishing Group, Recercat. Dipósit de la Recerca de Catalunya, instname, Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid, Consejería de Sanidad de la Comunidad de Madrid, Dipòsit Digital de la UB, Universidad de Barcelona, Dunning, A M, Michailidou, K, Kuchenbaecker, K B, Thompson, D, French, J D, Beesley, J, Healey, C S, Kar, S, Pooley, K A, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, N A, Sallari, R C, Hillman, K M, Kaufmann, S, Sivakumaran, H, Moradi Marjaneh, M, Lee, J S, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, M K, Dennis, J, Wang, Q, Hopper, J L, Southey, M C, Broeks, A, Schmidt, M K, Lophatananon, A, Muir, K, Beckmann, M W, Fasching, P A, Dos-Santos-Silva, I, Peto, J, Sawyer, E J, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, S E, Flyger, H, González-Neira, A & Perez, J I A & Anton-Culver, H & Eunjung, L & Arndt, V & Figueroa, J 2016, ' Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 ', Nature Genetics, vol. 48, no. 4, pp. 374-386 . https://doi.org/10.1038/ng.3521, Nature Genetics, 48, 374-86, Nature Genetics, 48, 4, pp. 374-86
- Publication Year :
- 2016
-
Abstract
- To access publisher's full text version of this article click on the hyperlink at the bottom of the page We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression. National Institute for Health Research (NIHR) info:eu-repo/grantAgreement/EC/FP7/223175 Cancer Research UK C1287/A10118 C1287/A10710 C12292/A11174 C1281/A12014 C5047/A8384 C5047/A15007 C5047/A10692 C8197/A16565 US National Institutes of Health (NIH) CA128978 CA192393 CA116167 CA176785 US National Institutes of Health (NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer) CA116201 Post-Cancer GWAS initiative 1U19 CA148537 1U19 CA148065 1U19 CA148112 Post-Cancer GWAS initiative (GAME-ON initiative) US Department of Defense W81XWH-10-1-0341 Canadian Institutes of Health Research (CIHR) Komen Foundation for the Cure Breast Cancer Research Foundation Ovarian Cancer Research Fund
- Subjects :
- 0301 basic medicine
Genes, BRCA2
Estrogen receptor
MODIFIERS
Gene Expression
Genome-wide association study
Cell Cycle Proteins
DISEASE
Breast cancer
Risk Factors
Brjóstakrabbamein
BRCA2 MUTATION CARRIERS
Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]
SUSCEPTIBILITY LOCUS
MAMMOGRAPHIC DENSITY
Regulation of gene expression
Genetics
Research Support, Non-U.S. Gov't
Estrogen Receptor alpha/genetics
Phenotype
3. Good health
Gene Expression Regulation, Neoplastic
Medical genetics
Chromosomes, Human, Pair 6
Female
BONE-MINERAL DENSITY
NAF12
Protein Binding
EXPRESSION
medicine.medical_specialty
Locus (genetics)
Breast Neoplasms
Estrògens
Biology
Breast Neoplasms/genetics
Polymorphism, Single Nucleotide
Article
Càncer de mama
03 medical and health sciences
Research Support, N.I.H., Extramural
SDG 3 - Good Health and Well-being
REVEALS
medicine
Journal Article
cancer
Humans
Genetic Predisposition to Disease
GENOME-WIDE ASSOCIATION
METAANALYSIS
breast
Genetic Association Studies
Base Sequence
Estrogen Receptor alpha
Genetic Variation
Arfgengi
medicine.disease
Estrogen
030104 developmental biology
breast cancer, BRCA1, BRCA2
Carrier Proteins
Estrogen receptor alpha
Research Support, U.S. Gov't, Non-P.H.S
Meta-Analysis
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Database :
- OpenAIRE
- Journal :
- Nature Genetics, 48(4), 374-386. Nature Publishing Group, Nature Genetics, 48(4), 374, Dunning, A M, Michailidou, K, Kuchenbaecker, K B, Thompson, D J, French, J D, Beesley, J, Healey, C S, Kar, S, Pooley, K A, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, N A, Sallari, R C, Hillman, K M, Kaufmann, S, Sivakumaran, H, Moradi Marjaneh, M, Lee, J S, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, M K, Dennis, J, Wang, Q, Hopper, J L, Southey, M C, Broeks, A, Schmidt, M K, Lophatananon, A, Muir, K, Beckmann, M W, Fasching, P A, Dos Santos Silva, I, Peto, J, Sawyer, E J, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, S E, Flyger, H, González-Neira, A, Perez, J I A, Shen, C-Y, Hansen, T V O, Bojesen, A, Thomassen, M & EMBRACE 2016, ' Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 ', Nature Genetics, vol. 48, no. 4, pp. 374-386 . https://doi.org/10.1038/ng.3521, Nature Genetics, 48(4), 374-+. Nature Publishing Group, Recercat. Dipósit de la Recerca de Catalunya, instname, Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid, Consejería de Sanidad de la Comunidad de Madrid, Dipòsit Digital de la UB, Universidad de Barcelona, Dunning, A M, Michailidou, K, Kuchenbaecker, K B, Thompson, D, French, J D, Beesley, J, Healey, C S, Kar, S, Pooley, K A, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, N A, Sallari, R C, Hillman, K M, Kaufmann, S, Sivakumaran, H, Moradi Marjaneh, M, Lee, J S, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, M K, Dennis, J, Wang, Q, Hopper, J L, Southey, M C, Broeks, A, Schmidt, M K, Lophatananon, A, Muir, K, Beckmann, M W, Fasching, P A, Dos-Santos-Silva, I, Peto, J, Sawyer, E J, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, S E, Flyger, H, González-Neira, A & Perez, J I A & Anton-Culver, H & Eunjung, L & Arndt, V & Figueroa, J 2016, ' Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 ', Nature Genetics, vol. 48, no. 4, pp. 374-386 . https://doi.org/10.1038/ng.3521, Nature Genetics, 48, 374-86, Nature Genetics, 48, 4, pp. 374-86
- Accession number :
- edsair.doi.dedup.....9243da2133c0ff63e63cff70cb87aac9
- Full Text :
- https://doi.org/10.1038/ng.3521