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Association of breast cancer risk with genetic variants showing differential allelic expression

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Association of breast cancer risk with genetic variants showing differential allelic expression : Identification of a novel breast cancer susceptibility locus at 4q21. / Hamdi, Yosr; Soucy, Penny; Adoue, Véronique; Michailidou, Kyriaki; Canisius, Sander; Lemaçon, Audrey; Droit, Arnaud; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Baynes, Caroline; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brand, Judith S; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Burwinkel, Barbara; Chang-Claude, Jenny; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Dörk, Thilo; Dos-Santos-Silva, Isabel; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; García-Closas, Montserrat; Giles, Graham; Goldberg, Mark S; González-Neira, Anna; Grenaker Alnæs, Grethe; Guénel, Pascal; Haeberle, Lothar; Haiman, Christopher A; Hamann, Ute; Hallberg, Emily; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jones, Michael; Kabisch, Maria; Kataja, Vesa; Lambrechts, Diether; Le Marchand, Loic; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Maranian, Mel J; Margolin, Sara; Marme, Frederik; Milne, Roger L; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olswold, Curtis; Peto, Julian; Plaseska-Karanfilska, Dijana; Pylkäs, Katri; Radice, Paolo; Rudolph, Anja; Sawyer, Elinor J; Schmidt, Marjanka K; Shu, Xiao-Ou; Southey, Melissa C; Swerdlow, Anthony; Tollenaar, Rob A E M; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine; Ouweland, Ans M W van der; Wang, Qin; Winqvist, Robert; Zheng, Wei; Benitez, Javier; Chenevix-Trench, Georgia; Dunning, Alison M; Pharoah, Paul D P; Kristensen, Vessela; Hall, Per; Easton, Douglas F; Pastinen, Tomi; Nord, Silje; Simard, Jacques; NBCS Collaborators.

In: ONCOTARGET, Vol. 7, No. 49, 06.12.2016, p. 80140-80163.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hamdi, Y, Soucy, P, Adoue, V, Michailidou, K, Canisius, S, Lemaçon, A, Droit, A, Andrulis, IL, Anton-Culver, H, Arndt, V, Baynes, C, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bonanni, B, Borresen-Dale, A-L, Brand, JS, Brauch, H, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, Couch, FJ, Cox, A, Cross, SS, Czene, K, Darabi, H, Dennis, J, Devilee, P, Dörk, T, Dos-Santos-Silva, I, Eriksson, M, Fasching, PA, Figueroa, J, Flyger, H, García-Closas, M, Giles, G, Goldberg, MS, González-Neira, A, Grenaker Alnæs, G, Guénel, P, Haeberle, L, Haiman, CA, Hamann, U, Hallberg, E, Hooning, MJ, Hopper, JL, Jakubowska, A, Jones, M, Kabisch, M, Kataja, V, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Maranian, MJ, Margolin, S, Marme, F, Milne, RL, Neuhausen, SL, Nevanlinna, H, Neven, P, Olswold, C, Peto, J, Plaseska-Karanfilska, D, Pylkäs, K, Radice, P, Rudolph, A, Sawyer, EJ, Schmidt, MK, Shu, X-O, Southey, MC, Swerdlow, A, Tollenaar, RAEM, Tomlinson, I, Torres, D, Truong, T, Vachon, C, Ouweland, AMWVD, Wang, Q, Winqvist, R, Zheng, W, Benitez, J, Chenevix-Trench, G, Dunning, AM, Pharoah, PDP, Kristensen, V, Hall, P, Easton, DF, Pastinen, T, Nord, S, Simard, J & NBCS Collaborators 2016, 'Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21', ONCOTARGET, vol. 7, no. 49, pp. 80140-80163. https://doi.org/10.18632/oncotarget.12818

APA

Hamdi, Y., Soucy, P., Adoue, V., Michailidou, K., Canisius, S., Lemaçon, A., Droit, A., Andrulis, I. L., Anton-Culver, H., Arndt, V., Baynes, C., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Borresen-Dale, A-L., Brand, J. S., Brauch, H., ... NBCS Collaborators (2016). Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. ONCOTARGET, 7(49), 80140-80163. https://doi.org/10.18632/oncotarget.12818

Vancouver

Hamdi Y, Soucy P, Adoue V, Michailidou K, Canisius S, Lemaçon A et al. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. ONCOTARGET. 2016 Dec 6;7(49):80140-80163. https://doi.org/10.18632/oncotarget.12818

Bibtex

@article{e0b287e0d1c547e6ba10097b102d9043,
title = "Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21",
abstract = "There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.",
keywords = "Journal Article",
author = "Yosr Hamdi and Penny Soucy and V{\'e}ronique Adoue and Kyriaki Michailidou and Sander Canisius and Audrey Lema{\c c}on and Arnaud Droit and Andrulis, {Irene L} and Hoda Anton-Culver and Volker Arndt and Caroline Baynes and Carl Blomqvist and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Bolla, {Manjeet K} and Bernardo Bonanni and Anne-Lise Borresen-Dale and Brand, {Judith S} and Hiltrud Brauch and Hermann Brenner and Annegien Broeks and Barbara Burwinkel and Jenny Chang-Claude and Couch, {Fergus J} and Angela Cox and Cross, {Simon S} and Kamila Czene and Hatef Darabi and Joe Dennis and Peter Devilee and Thilo D{\"o}rk and Isabel Dos-Santos-Silva and Mikael Eriksson and Fasching, {Peter A} and Jonine Figueroa and Henrik Flyger and Montserrat Garc{\'i}a-Closas and Graham Giles and Goldberg, {Mark S} and Anna Gonz{\'a}lez-Neira and {Grenaker Aln{\ae}s}, Grethe and Pascal Gu{\'e}nel and Lothar Haeberle and Haiman, {Christopher A} and Ute Hamann and Emily Hallberg and Hooning, {Maartje J} and Hopper, {John L} and Anna Jakubowska and Michael Jones and Maria Kabisch and Vesa Kataja and Diether Lambrechts and {Le Marchand}, Loic and Annika Lindblom and Jan Lubinski and Arto Mannermaa and Maranian, {Mel J} and Sara Margolin and Frederik Marme and Milne, {Roger L} and Neuhausen, {Susan L} and Heli Nevanlinna and Patrick Neven and Curtis Olswold and Julian Peto and Dijana Plaseska-Karanfilska and Katri Pylk{\"a}s and Paolo Radice and Anja Rudolph and Sawyer, {Elinor J} and Schmidt, {Marjanka K} and Xiao-Ou Shu and Southey, {Melissa C} and Anthony Swerdlow and Tollenaar, {Rob A E M} and Ian Tomlinson and Diana Torres and Th{\'e}r{\`e}se Truong and Celine Vachon and Ouweland, {Ans M W van der} and Qin Wang and Robert Winqvist and Wei Zheng and Javier Benitez and Georgia Chenevix-Trench and Dunning, {Alison M} and Pharoah, {Paul D P} and Vessela Kristensen and Per Hall and Easton, {Douglas F} and Tomi Pastinen and Silje Nord and Jacques Simard and {NBCS Collaborators}",
year = "2016",
month = dec,
day = "6",
doi = "10.18632/oncotarget.12818",
language = "English",
volume = "7",
pages = "80140--80163",
journal = "ONCOTARGET",
issn = "1949-2553",
publisher = "IMPACT JOURNALS LLC",
number = "49",

}

RIS

TY - JOUR

T1 - Association of breast cancer risk with genetic variants showing differential allelic expression

T2 - Identification of a novel breast cancer susceptibility locus at 4q21

AU - Hamdi, Yosr

AU - Soucy, Penny

AU - Adoue, Véronique

AU - Michailidou, Kyriaki

AU - Canisius, Sander

AU - Lemaçon, Audrey

AU - Droit, Arnaud

AU - Andrulis, Irene L

AU - Anton-Culver, Hoda

AU - Arndt, Volker

AU - Baynes, Caroline

AU - Blomqvist, Carl

AU - Bogdanova, Natalia V

AU - Bojesen, Stig E

AU - Bolla, Manjeet K

AU - Bonanni, Bernardo

AU - Borresen-Dale, Anne-Lise

AU - Brand, Judith S

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Broeks, Annegien

AU - Burwinkel, Barbara

AU - Chang-Claude, Jenny

AU - Couch, Fergus J

AU - Cox, Angela

AU - Cross, Simon S

AU - Czene, Kamila

AU - Darabi, Hatef

AU - Dennis, Joe

AU - Devilee, Peter

AU - Dörk, Thilo

AU - Dos-Santos-Silva, Isabel

AU - Eriksson, Mikael

AU - Fasching, Peter A

AU - Figueroa, Jonine

AU - Flyger, Henrik

AU - García-Closas, Montserrat

AU - Giles, Graham

AU - Goldberg, Mark S

AU - González-Neira, Anna

AU - Grenaker Alnæs, Grethe

AU - Guénel, Pascal

AU - Haeberle, Lothar

AU - Haiman, Christopher A

AU - Hamann, Ute

AU - Hallberg, Emily

AU - Hooning, Maartje J

AU - Hopper, John L

AU - Jakubowska, Anna

AU - Jones, Michael

AU - Kabisch, Maria

AU - Kataja, Vesa

AU - Lambrechts, Diether

AU - Le Marchand, Loic

AU - Lindblom, Annika

AU - Lubinski, Jan

AU - Mannermaa, Arto

AU - Maranian, Mel J

AU - Margolin, Sara

AU - Marme, Frederik

AU - Milne, Roger L

AU - Neuhausen, Susan L

AU - Nevanlinna, Heli

AU - Neven, Patrick

AU - Olswold, Curtis

AU - Peto, Julian

AU - Plaseska-Karanfilska, Dijana

AU - Pylkäs, Katri

AU - Radice, Paolo

AU - Rudolph, Anja

AU - Sawyer, Elinor J

AU - Schmidt, Marjanka K

AU - Shu, Xiao-Ou

AU - Southey, Melissa C

AU - Swerdlow, Anthony

AU - Tollenaar, Rob A E M

AU - Tomlinson, Ian

AU - Torres, Diana

AU - Truong, Thérèse

AU - Vachon, Celine

AU - Ouweland, Ans M W van der

AU - Wang, Qin

AU - Winqvist, Robert

AU - Zheng, Wei

AU - Benitez, Javier

AU - Chenevix-Trench, Georgia

AU - Dunning, Alison M

AU - Pharoah, Paul D P

AU - Kristensen, Vessela

AU - Hall, Per

AU - Easton, Douglas F

AU - Pastinen, Tomi

AU - Nord, Silje

AU - Simard, Jacques

AU - NBCS Collaborators

PY - 2016/12/6

Y1 - 2016/12/6

N2 - There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.

AB - There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.

KW - Journal Article

U2 - 10.18632/oncotarget.12818

DO - 10.18632/oncotarget.12818

M3 - SCORING: Journal article

C2 - 27792995

VL - 7

SP - 80140

EP - 80163

JO - ONCOTARGET

JF - ONCOTARGET

SN - 1949-2553

IS - 49

ER -