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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.


ABSTRACT: Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.

SUBMITTER: Feng H 

PROVIDER: S-EPMC7987299 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Feng Helian H   Gusev Alexander A   Pasaniuc Bogdan B   Wu Lang L   Long Jirong J   Abu-Full Zomoroda Z   Aittomäki Kristiina K   Andrulis Irene L IL   Anton-Culver Hoda H   Antoniou Antonis C AC   Arason Adalgeir A   Arndt Volker V   Aronson Kristan J KJ   Arun Banu K BK   Asseryanis Ella E   Auer Paul L PL   Azzollini Jacopo J   Balmaña Judith J   Barkardottir Rosa B RB   Barnes Daniel R DR   Barrowdale Daniel D   Beckmann Matthias W MW   Behrens Sabine S   Benitez Javier J   Bermisheva Marina M   Białkowska Katarzyna K   Blanco Ana A   Blomqvist Carl C   Boeckx Bram B   Bogdanova Natalia V NV   Bojesen Stig E SE   Bolla Manjeet K MK   Bonanni Bernardo B   Borg Ake A   Brauch Hiltrud H   Brenner Hermann H   Briceno Ignacio I   Broeks Annegien A   Brüning Thomas T   Burwinkel Barbara B   Cai Qiuyin Q   Caldés Trinidad T   Caligo Maria A MA   Campbell Ian I   Canisius Sander S   Campa Daniele D   Carter Brian D BD   Carter Jonathan J   Castelao Jose E JE   Chang-Claude Jenny J   Chanock Stephen J SJ   Christiansen Hans H   Chung Wendy K WK   Claes Kathleen B M KBM   Clarke Christine L CL   Couch Fergus J FJ   Cox Angela A   Cross Simon S SS   Cybulski Cezary C   Czene Kamila K   Daly Mary B MB   de la Hoya Miguel M   De Leeneer Kim K   Dennis Joe J   Devilee Peter P   Diez Orland O   Domchek Susan M SM   Dörk Thilo T   Dos-Santos-Silva Isabel I   Dunning Alison M AM   Dwek Miriam M   Eccles Diana M DM   Ejlertsen Bent B   Ellberg Carolina C   Engel Christoph C   Eriksson Mikael M   Fasching Peter A PA   Fletcher Olivia O   Flyger Henrik H   Fostira Florentia F   Friedman Eitan E   Fritschi Lin L   Frost Debra D   Gabrielson Marike M   Ganz Patricia A PA   Gapstur Susan M SM   Garber Judy J   García-Closas Montserrat M   García-Sáenz José A JA   Gaudet Mia M MM   Giles Graham G GG   Glendon Gord G   Godwin Andrew K AK   Goldberg Mark S MS   Goldgar David E DE   González-Neira Anna A   Greene Mark H MH   Gronwald Jacek J   Guénel Pascal P   Haiman Christopher A CA   Hall Per P   Hamann Ute U   Hake Christopher C   He Wei W   Heyworth Jane J   Hogervorst Frans B L FBL   Hollestelle Antoinette A   Hooning Maartje J MJ   Hoover Robert N RN   Hopper John L JL   Huang Guanmengqian G   Hulick Peter J PJ   Humphreys Keith K   Imyanitov Evgeny N EN   Isaacs Claudine C   Jakimovska Milena M   Jakubowska Anna A   James Paul P   Janavicius Ramunas R   Jankowitz Rachel C RC   John Esther M EM   Johnson Nichola N   Joseph Vijai V   Jung Audrey A   Karlan Beth Y BY   Khusnutdinova Elza E   Kiiski Johanna I JI   Konstantopoulou Irene I   Kristensen Vessela N VN   Laitman Yael Y   Lambrechts Diether D   Lazaro Conxi C   Leroux Dominique D   Leslie Goska G   Lester Jenny J   Lesueur Fabienne F   Lindor Noralane N   Lindström Sara S   Lo Wing-Yee WY   Loud Jennifer T JT   Lubiński Jan J   Makalic Enes E   Mannermaa Arto A   Manoochehri Mehdi M   Manoukian Siranoush S   Margolin Sara S   Martens John W M JWM   Martinez Maria E ME   Matricardi Laura L   Maurer Tabea T   Mavroudis Dimitrios D   McGuffog Lesley L   Meindl Alfons A   Menon Usha U   Michailidou Kyriaki K   Kapoor Pooja M PM   Miller Austin A   Montagna Marco M   Moreno Fernando F   Moserle Lidia L   Mulligan Anna M AM   Muranen Taru A TA   Nathanson Katherine L KL   Neuhausen Susan L SL   Nevanlinna Heli H   Nevelsteen Ines I   Nielsen Finn C FC   Nikitina-Zake Liene L   Offit Kenneth K   Olah Edith E   Olopade Olufunmilayo I OI   Olsson Håkan H   Osorio Ana A   Papp Janos J   Park-Simon Tjoung-Won TW   Parsons Michael T MT   Pedersen Inge S IS   Peixoto Ana A   Peterlongo Paolo P   Peto Julian J   Pharoah Paul D P PDP   Phillips Kelly-Anne KA   Plaseska-Karanfilska Dijana D   Poppe Bruce B   Pradhan Nisha N   Prajzendanc Karolina K   Presneau Nadege N   Punie Kevin K   Pylkäs Katri K   Radice Paolo P   Rantala Johanna J   Rashid Muhammad Usman MU   Rennert Gad G   Risch Harvey A HA   Robson Mark M   Romero Atocha A   Saloustros Emmanouil E   Sandler Dale P DP   Santos Catarina C   Sawyer Elinor J EJ   Schmidt Marjanka K MK   Schmidt Daniel F DF   Schmutzler Rita K RK   Schoemaker Minouk J MJ   Scott Rodney J RJ   Sharma Priyanka P   Shu Xiao-Ou XO   Simard Jacques J   Singer Christian F CF   Skytte Anne-Bine AB   Soucy Penny P   Southey Melissa C MC   Spinelli John J JJ   Spurdle Amanda B AB   Stone Jennifer J   Swerdlow Anthony J AJ   Tapper William J WJ   Taylor Jack A JA   Teixeira Manuel R MR   Terry Mary Beth MB   Teulé Alex A   Thomassen Mads M   Thöne Kathrin K   Thull Darcy L DL   Tischkowitz Marc M   Toland Amanda E AE   Tollenaar Rob A E M RAEM   Torres Diana D   Truong Thérèse T   Tung Nadine N   Vachon Celine M CM   van Asperen Christi J CJ   van den Ouweland Ans M W AMW   van Rensburg Elizabeth J EJ   Vega Ana A   Viel Alessandra A   Vieiro-Balo Paula P   Wang Qin Q   Wappenschmidt Barbara B   Weinberg Clarice R CR   Weitzel Jeffrey N JN   Wendt Camilla C   Winqvist Robert R   Yang Xiaohong R XR   Yannoukakos Drakoulis D   Ziogas Argyrios A   Milne Roger L RL   Easton Douglas F DF   Chenevix-Trench Georgia G   Zheng Wei W   Kraft Peter P   Jiang Xia X  

Genetic epidemiology 20200301 5


Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). W  ...[more]

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