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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. / Dunning, Alison M; Michailidou, Kyriaki; Kuchenbaecker, Karoline B; Thompson, Deborah; French, Juliet D; Beesley, Jonathan; Healey, Catherine S; Kar, Siddhartha; Pooley, Karen A; Lopez-Knowles, Elena; Dicks, Ed; Barrowdale, Daniel; Sinnott-Armstrong, Nicholas A; Sallari, Richard C; Hillman, Kristine M; Kaufmann, Susanne; Sivakumaran, Haran; Moradi Marjaneh, Mahdi; Lee, Jason S; Hills, Margaret; Jarosz, Monika; Drury, Suzie; Canisius, Sander; Bolla, Manjeet K; Dennis, Joe; Wang, Qin; Hopper, John L; Southey, Melissa C; Broeks, Annegien; Schmidt, Marjanka K; Lophatananon, Artitaya; Muir, Kenneth; Beckmann, Matthias W; Fasching, Peter A; Dos-Santos-Silva, Isabel; Peto, Julian; Sawyer, Elinor J; Tomlinson, Ian; Burwinkel, Barbara; Marme, Frederik; Guénel, Pascal; Truong, Thérèse; Bojesen, Stig E; Flyger, Henrik Lavlund; González-Neira, Anna; Perez, Jose I A; Anton-Culver, Hoda; Eunjung, Lee; Arndt, Volker; Brenner, Hermann; EMBRACE.
In:
Nature Genetics, Vol. 48, No. 4, 2016, p. 374-86.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Dunning, AM, Michailidou, K, Kuchenbaecker, KB, Thompson, D, French, JD, Beesley, J, Healey, CS, Kar, S, Pooley, KA, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, NA, Sallari, RC, Hillman, KM, Kaufmann, S, Sivakumaran, H, Moradi Marjaneh, M, Lee, JS, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, MK, Dennis, J, Wang, Q, Hopper, JL, Southey, MC, Broeks, A, Schmidt, MK, Lophatananon, A, Muir, K, Beckmann, MW, Fasching, PA, Dos-Santos-Silva, I, Peto, J, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T
, Bojesen, SE, Flyger, HL, González-Neira, A, Perez, JIA, Anton-Culver, H, Eunjung, L, Arndt, V, Brenner, H & 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. 374-86.
https://doi.org/10.1038/ng.3521APA
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., ... EMBRACE (2016).
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature Genetics,
48(4), 374-86.
https://doi.org/10.1038/ng.3521Vancouver
Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J et al.
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature Genetics. 2016;48(4):374-86.
https://doi.org/10.1038/ng.3521Author
Dunning, Alison M ; Michailidou, Kyriaki ; Kuchenbaecker, Karoline B ; Thompson, Deborah ; French, Juliet D ; Beesley, Jonathan ; Healey, Catherine S ; Kar, Siddhartha ; Pooley, Karen A ; Lopez-Knowles, Elena ; Dicks, Ed ; Barrowdale, Daniel ; Sinnott-Armstrong, Nicholas A ; Sallari, Richard C ; Hillman, Kristine M ; Kaufmann, Susanne ; Sivakumaran, Haran ; Moradi Marjaneh, Mahdi ; Lee, Jason S ; Hills, Margaret ; Jarosz, Monika ; Drury, Suzie ; Canisius, Sander ; Bolla, Manjeet K ; Dennis, Joe ; Wang, Qin ; Hopper, John L ; Southey, Melissa C ; Broeks, Annegien ; Schmidt, Marjanka K ; Lophatananon, Artitaya ; Muir, Kenneth ; Beckmann, Matthias W ; Fasching, Peter A ; Dos-Santos-Silva, Isabel ; Peto, Julian ; Sawyer, Elinor J ; Tomlinson, Ian ; Burwinkel, Barbara ; Marme, Frederik ; Guénel, Pascal ; Truong, Thérèse ; Bojesen, Stig E ; Flyger, Henrik Lavlund ; González-Neira, Anna ; Perez, Jose I A ; Anton-Culver, Hoda ; Eunjung, Lee ; Arndt, Volker ; Brenner, Hermann ; EMBRACE. / Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. In: Nature Genetics. 2016 ; Vol. 48, No. 4. pp. 374-86.
Bibtex
@article{6ed245345197454c986b9a1d617fe62d,
title = "Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170",
abstract = "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.",
keywords = "Base Sequence, Breast Neoplasms, Carrier Proteins, Cell Cycle Proteins, Chromosomes, Human, Pair 6, Estrogen Receptor alpha, Female, Gene Expression, Gene Expression Regulation, Neoplastic, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Phenotype, Polymorphism, Single Nucleotide, Protein Binding, Risk Factors, Journal Article, Meta-Analysis, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.",
author = "Dunning, {Alison M} and Kyriaki Michailidou and Kuchenbaecker, {Karoline B} and Deborah Thompson and French, {Juliet D} and Jonathan Beesley and Healey, {Catherine S} and Siddhartha Kar and Pooley, {Karen A} and Elena Lopez-Knowles and Ed Dicks and Daniel Barrowdale and Sinnott-Armstrong, {Nicholas A} and Sallari, {Richard C} and Hillman, {Kristine M} and Susanne Kaufmann and Haran Sivakumaran and {Moradi Marjaneh}, Mahdi and Lee, {Jason S} and Margaret Hills and Monika Jarosz and Suzie Drury and Sander Canisius and Bolla, {Manjeet K} and Joe Dennis and Qin Wang and Hopper, {John L} and Southey, {Melissa C} and Annegien Broeks and Schmidt, {Marjanka K} and Artitaya Lophatananon and Kenneth Muir and Beckmann, {Matthias W} and Fasching, {Peter A} and Isabel Dos-Santos-Silva and Julian Peto and Sawyer, {Elinor J} and Ian Tomlinson and Barbara Burwinkel and Frederik Marme and Pascal Gu{\'e}nel and Th{\'e}r{\`e}se Truong and Bojesen, {Stig E} and Flyger, {Henrik Lavlund} and Anna Gonz{\'a}lez-Neira and Perez, {Jose I A} and Hoda Anton-Culver and Lee Eunjung and Volker Arndt and Hermann Brenner and EMBRACE",
year = "2016",
doi = "10.1038/ng.3521",
language = "English",
volume = "48",
pages = "374--86",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "4",
}
RIS
TY - JOUR
T1 - Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
AU - Dunning, Alison M
AU - Michailidou, Kyriaki
AU - Kuchenbaecker, Karoline B
AU - Thompson, Deborah
AU - French, Juliet D
AU - Beesley, Jonathan
AU - Healey, Catherine S
AU - Kar, Siddhartha
AU - Pooley, Karen A
AU - Lopez-Knowles, Elena
AU - Dicks, Ed
AU - Barrowdale, Daniel
AU - Sinnott-Armstrong, Nicholas A
AU - Sallari, Richard C
AU - Hillman, Kristine M
AU - Kaufmann, Susanne
AU - Sivakumaran, Haran
AU - Moradi Marjaneh, Mahdi
AU - Lee, Jason S
AU - Hills, Margaret
AU - Jarosz, Monika
AU - Drury, Suzie
AU - Canisius, Sander
AU - Bolla, Manjeet K
AU - Dennis, Joe
AU - Wang, Qin
AU - Hopper, John L
AU - Southey, Melissa C
AU - Broeks, Annegien
AU - Schmidt, Marjanka K
AU - Lophatananon, Artitaya
AU - Muir, Kenneth
AU - Beckmann, Matthias W
AU - Fasching, Peter A
AU - Dos-Santos-Silva, Isabel
AU - Peto, Julian
AU - Sawyer, Elinor J
AU - Tomlinson, Ian
AU - Burwinkel, Barbara
AU - Marme, Frederik
AU - Guénel, Pascal
AU - Truong, Thérèse
AU - Bojesen, Stig E
AU - Flyger, Henrik Lavlund
AU - González-Neira, Anna
AU - Perez, Jose I A
AU - Anton-Culver, Hoda
AU - Eunjung, Lee
AU - Arndt, Volker
AU - Brenner, Hermann
AU - EMBRACE
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Base Sequence
KW - Breast Neoplasms
KW - Carrier Proteins
KW - Cell Cycle Proteins
KW - Chromosomes, Human, Pair 6
KW - Estrogen Receptor alpha
KW - Female
KW - Gene Expression
KW - Gene Expression Regulation, Neoplastic
KW - Genetic Association Studies
KW - Genetic Predisposition to Disease
KW - Humans
KW - Phenotype
KW - Polymorphism, Single Nucleotide
KW - Protein Binding
KW - Risk Factors
KW - Journal Article
KW - Meta-Analysis
KW - Research Support, N.I.H., Extramural
KW - Research Support, Non-U.S. Gov't
KW - Research Support, U.S. Gov't, Non-P.H.S.
U2 - 10.1038/ng.3521
DO - 10.1038/ng.3521
M3 - Journal article
C2 - 26928228
VL - 48
SP - 374
EP - 386
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 4
ER -
