Author: "Canisius, S. (Sander)" - Searchworks@Jio Institute Digital Library Search Results

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1. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Author: Escala-Garcia, M. (Maria), Canisius, S. (Sander), Keeman, R. (Renske), Beesley, J. (Jonathan), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bermisheva, M. (Marina), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Couch, F. J. (Fergus J.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dork, T. (Thilo), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Geisler, J. (Juergen), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hartikainen, J. M. (Jaana M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jacot, W. (William), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Khusnutdinova, E. (Elza), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Luben, R. N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa V.), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Punie, K. (Kevin), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Roylance, R. (Rebecca), Ruediger, T. (Thomas), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Scott, C. (Christopher), Southey, M. C. (Melissa C.), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Teras, L. R. (Lauren R.), Thomas, E. (Emilie), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Michailidou, K. (Kyriaki), Chenevix-Trench, G. (Georgia), Bachelot, T. (Thomas), Schmidt, M. K. (Marjanka K.), Escala-Garcia, M. (Maria), Canisius, S. (Sander), Keeman, R. (Renske), Beesley, J. (Jonathan), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bermisheva, M. (Marina), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Couch, F. J. (Fergus J.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dork, T. (Thilo), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Geisler, J. (Juergen), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hartikainen, J. M. (Jaana M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jacot, W. (William), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Khusnutdinova, E. (Elza), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Luben, R. N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa V.), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Punie, K. (Kevin), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Roylance, R. (Rebecca), Ruediger, T. (Thomas), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Scott, C. (Christopher), Southey, M. C. (Melissa C.), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Teras, L. R. (Lauren R.), Thomas, E. (Emilie), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Michailidou, K. (Kyriaki), Chenevix-Trench, G. (Georgia), Bachelot, T. (Thomas), and Schmidt, M. K. (Marjanka K.)
Abstract: Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10−8 and 4.42 × 10−8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
Published: 2021

2. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Author: Morra, A. (Anna), Escala-Garcia, M. (Maria), Beesley, J. (Jonathan), Keeman, R. (Renske), Canisius, S. (Sander), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Bruening, T. (Thomas), Buys, S. S. (Saundra S.), Caan, B. (Bette), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Cheng, T. D. (Ting-Yuan David), Clarke, C. L. (Christine L.), Colonna, S. V. (Sarah, V), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Dork, T. (Thilo), Dossus, L. (Laure), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Garcia-Saenz, J. A. (Jose A.), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guenel, P. (Pascal), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hartmann, A. (Arndt), He, W. (Wei), Hooning, M. J. (Maartje J.), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Keupers, M. (Machteld), Kitahara, C. M. (Cari M.), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Linet, M. (Martha), Luben, R. N. (Robert N.), Lush, M. (Michael), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Presneau, N. (Nadege), Rack, B. (Brigitte), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Lubinski, J. (Jan), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, C. (Christopher), Shah, M. (Mitul), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Hurson, A. N. (Amber N.), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Brauch, H. (Hiltrud), Garcia-Closas, M. (Montserrat), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), Schmidt, M. K. (Marjanka K.), Morra, A. (Anna), Escala-Garcia, M. (Maria), Beesley, J. (Jonathan), Keeman, R. (Renske), Canisius, S. (Sander), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Bruening, T. (Thomas), Buys, S. S. (Saundra S.), Caan, B. (Bette), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Cheng, T. D. (Ting-Yuan David), Clarke, C. L. (Christine L.), Colonna, S. V. (Sarah, V), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Dork, T. (Thilo), Dossus, L. (Laure), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Garcia-Saenz, J. A. (Jose A.), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guenel, P. (Pascal), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hartmann, A. (Arndt), He, W. (Wei), Hooning, M. J. (Maartje J.), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Keupers, M. (Machteld), Kitahara, C. M. (Cari M.), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Linet, M. (Martha), Luben, R. N. (Robert N.), Lush, M. (Michael), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Presneau, N. (Nadege), Rack, B. (Brigitte), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Lubinski, J. (Jan), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, C. (Christopher), Shah, M. (Mitul), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Hurson, A. N. (Amber N.), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Brauch, H. (Hiltrud), Garcia-Closas, M. (Montserrat), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), and Schmidt, M. K. (Marjanka K.)
Abstract: Background: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. Methods: We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP & 0.15). Results: Evidence of associations with breast cancer-specific survival was observed in three patient subgroups, with variant rs5934618 in patients with grade 3 tumors (15-year-hazard ratio (HR) [95% confidence interval (CI)] 1.32 [1.20, 1.45], P = 1.4E−08, BFDP = 0.01, per G allele); variant rs4679741 in patients with ER-positive tumors treated with endocrine therapy (15-year-HR [95% CI] 1.18 [1.11, 1.26], P = 1.6E−07, BFDP = 0.09, per G allele); variants rs1106333 (15-year-HR [95% CI] 1.68 [1.39,2.03], P = 5.6E−08, BFDP = 0.12, per A allele) and rs78754389 (5-year-HR [95% CI] 1.79 [1.46,2.20], P = 1.7E−08, BFDP = 0.07, per A allele), in patients with ER-negative tumors treated with chemotherapy. Conclusions: We found evidence of four loci associated with breast cancer-specific survival within three patient subgroups. There was limited evidence for the existence of associations in other patient subgroups. However, the power for many subgroups is limited due to the low number of events. Even so, our results suggest that the impact of common germline genetic varia
Published: 2021

3. Integrative analysis of genomic amplification-dependent expression and loss-of-function screen identifies ASAP1 as a driver gene in triple-negative breast cancer progression

Author: He, J. (Jichao), McLaughlin, R.P. (Ronan P.), van der Beek, L. (Lambert), Canisius, S. (Sander), Wessels, L. (Lodewyk), Smid, M. (Marcel), Martens, J.W.M. (John), Foekens, J.A. (John), Zhang, Y. (Yinghui), Van de Water, B. (Bob), He, J. (Jichao), McLaughlin, R.P. (Ronan P.), van der Beek, L. (Lambert), Canisius, S. (Sander), Wessels, L. (Lodewyk), Smid, M. (Marcel), Martens, J.W.M. (John), Foekens, J.A. (John), Zhang, Y. (Yinghui), and Van de Water, B. (Bob)
Abstract: The genetically heterogeneous triple-negative breast cancer (TNBC) continues to be an intractable disease, due to lack of effective targeted therapies. Gene amplification is a major event in tumorigenesis. Genes with amplification-dependent expression are being explored as therapeutic targets for cancer treatment. In this study, we have applied Analytical Multi-scale Identification of Recurring Events analysis and transcript quantification in the TNBC genome across 222 TNBC tumors and identified 138 candidate genes with positive correlation in copy number gain (CNG) and gene expression. siRNA-based loss-of-function screen of the candidate genes has validated EGFR, MYC, ASAP1, IRF2BP2, and CCT5 genes as drivers promoting proliferation in different TNBC cells. MYC, ASAP1, IRF2BP2, and CCT5 display frequent CNG and concurrent expression over 2173 breast cancer tumors (cBioPortal dataset). More frequently are MYC and ASAP1 amplified in TNBC tumors (>30%, n = 320). In particular, high expression of ASAP1, the ADP-ribosylation factor GTPase-activating protein, is significantly related to poor metastatic relapse-free survival of TNBC patients (n = 257, bc-GenExMiner). Furthermore, we have revealed that silencing of ASAP1 modulates numerous cytokine and apoptosis signaling components, such as IL1B, TRAF1, AIFM2, and MAP3K11 that are clinically relevant to survival outcomes of TNBC patients. ASAP1 has been reported to promote invasion and metastasis in various cancer cells. Our findings that ASAP1 is an amplification-dependent TNBC driver gene promoting TNBC cell proliferation, functioning upstream apoptosis components, and correlating to clinical outcomes of TNBC patients, support ASAP1 as a potential actionable target for TNBC treatment.
Published: 2020
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4. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Author: Feng, H. (Helian), Gusev, A. (Alexander), Pasaniuc, B. (Bogdan), Wu, L. (Lang), Long, J. (Jirong), Abu-full, Z. (Zomoroda), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A.C. (Antonis C.), Arason, A. (Adalgeir), Arndt, V. (Volker), Aronson, K.J. (Kristan J.), Arun, B.K. (Banu), Asseryanis, E. (Ella), Auer, P.L. (Paul L.), Azzollini, J., Balmaña, J. (Judith), Barkardottir, R.B. (Rosa B.), Barnes, D. (Daniel), Barrowdale, D. (Daniel), Beckmann, M.W. (Matthias), Behrens, T.W. (Timothy), Benítez, J. (Javier), Bermisheva, M. (Marina), Białkowska, K. (Katarzyna), Blanco, A. (Ana), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borg, Å. (Åke), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Broeks, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Canisius, S. (Sander), Campa, D. (Daniele), Carter, B.D. (Brian D.), Carter, J. (Jonathan), Castelao, J.E. (Jose ), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Christiansen, H. (Hans), Chung, W. (Wendy), Claes, K.B.M. (Kathleen B. M.), Clarke, C. (Christine), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon S.), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary), de la Hoya, M. (Miguel), De Leeneer, K. (Kim), Dennis, J. (Joe), Devilee, P. (Peter), Diez, O. (Orland), Domchek, S.M. (Susan), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Dunning, A.M. (Alison M.), Dwek, M. (Miriam), Eccles, D.M. (Diana M.), Ejlertsen, B. (Bent), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Friedman, E. (Eitan), Fritschi, L. (Lin), Frost, D. (Debra), Gabrielson, M. (Marike), Ganz, P.A. (Patricia A.), Gapstur, S.M. (Susan M.), Garber, J. (Judy), García-Closas, M. (Montserrat), García-Sáenz, J.A. (José A.), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Glendon, G. (Gord), Godwin, A.K. (Andrew), Goldberg, M.S. (Mark), Radice, P. (Paolo), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hake, C. (Christopher), He, W. (Wei), Heyworth, J. (Jane), Hogervorst, F.B.L. (Frans B.L.), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje J.), Hoover, R.N. (Robert), Hopper, J.L. (John), Huang, G. (Guanmengqian), Hulick, P.J. (Peter J.), Humphreys, K. (Keith), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, M. (Margaret), Janavicius, R. (Ramunas), Jankowitz, R.C. (Rachel C.), John, E.M. (Esther), Johnson, N. (Nichola), Joseph, V. (Vijai), Jung, A. (Audrey), Karlan, B.Y. (Beth), Khusnutdinova, E.K. (Elza), Kiiski, J.I. (Johanna I.), Konstantopoulou, I. (Irene), Kristensen, V. (Vessela), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Leroux, D. (Dominique), Leslie, G. (Goska), Lester, J. (Jenny), Lesueur, F. (Fabienne), Lindor, N.M. (Noralane), Lindström, S. (Sara), Lo, W.-Y. (Wing-Yee), Loud, J.T. (Jennifer T.), Lubinski, J. (Jan), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J.W.M. (John), Martinez, M.E. (Maria E.), Matricardi, L. (Laura), Maurer, T. (Tabea), Mavroudis, D. (Dimitris), McGuffog, L. (Lesley), Meindl, A. (Alfons), Menon, U. (Usha), Michailidou, K. (Kyriaki), Kapoor, P.M. (Pooja M.), Miller, A. (Austin), Montagna, M. (Marco), Moreno, F. (Fernando), Moserle, L. (Lidia), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru A.), Nathanson, K.L. (Katherine), Floris, O.A.M., Nevanlinna, H. (Heli), Nevelsteen, I. (Ines), Nielsen, F. (Finn), Nikitina-Zake, L. (Liene), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olofunmilayo), Olsson, H. (Håkan), Osorio, A. (Ana), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. (Marilyn), Pedersen, I.S. (Inge S.), Peixoto, A. (Ana), Peterlongo, P. (Paolo), Peto, J. (Julian), Pharoah, P.D.P. (Paul), Phillips, K.-A. (Kelly-Anne), Plaseska-Karanfilska, D. (Dijana), Poppe, B. (Bruce), Pradhan, N. (Nisha), Prajzendanc, K. (Karolina), Presneau, N. (Nadege), Punie, K. (Kevin), Pylkäs, K. (Katri), Rantala, J. (Johanna), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Risch, H.A. (Harvey A.), Robson, M. (Mark), Romero, A. (Atocha), Saloustros, E. (Emmanouil), Sandler, D.P. (Dale P.), Santos, C. (Catarina), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmidt, D.F. (Daniel), Schmutzler, R.K. (Rita), Schoemaker, M.J. (Minouk J.), Scott, R.J. (Rodney), Sharma, P. (Priyanka), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Singer, C.F. (Christian), Skytte, A.-B. (Anne-Bine), Soucy, P. (Penny), Southey, M.C. (Melissa), Spinelli, J.J. (John J.), Spurdle, A.B. (Amanda), Stone, J. (Jennifer), Swerdlow, A.J. (Anthony ), Tapper, W.J. (William J.), Taylor, J.A. (Jack A.), Teixeira, P.J., Terry, M.B. (Mary Beth), Teulé, A. (Alex), Thomassen, M. (Mads), Thöne, K. (Kathrin), Thull, D.L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Torres, D. (Diana), Truong, T. (Thérèse), Tung, N. (Nadine), Vachon, C. (Celine), van Asperen, C.J. (Christi J.), Ouweland, A.M.W. (Ans) van den, Rensburg, E.J. (Elizabeth) van, Vega, A. (Ana), Viel, A. (Alessandra), Vieiro-Balo, P. (Paula), Wang, Q. (Qin), Wappenschmidt, B. (Barbara), Weinberg, C.R. (Clarice R.), Weitzel, J.N. (Jeffrey), Wendt, C. (Camilla), Winqvist, R. (Robert), Yang, X.R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Ziogas, A. (Argyrios), Milne, R.L. (Roger), Adamo, P. (Pio) d', Chenevix-Trench, G. (Georgia), Zheng, W. (Wei), Kraft, P. (Peter), Jiang, X. (Xia), Feng, H. (Helian), Gusev, A. (Alexander), Pasaniuc, B. (Bogdan), Wu, L. (Lang), Long, J. (Jirong), Abu-full, Z. (Zomoroda), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A.C. (Antonis C.), Arason, A. (Adalgeir), Arndt, V. (Volker), Aronson, K.J. (Kristan J.), Arun, B.K. (Banu), Asseryanis, E. (Ella), Auer, P.L. (Paul L.), Azzollini, J., Balmaña, J. (Judith), Barkardottir, R.B. (Rosa B.), Barnes, D. (Daniel), Barrowdale, D. (Daniel), Beckmann, M.W. (Matthias), Behrens, T.W. (Timothy), Benítez, J. (Javier), Bermisheva, M. (Marina), Białkowska, K. (Katarzyna), Blanco, A. (Ana), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borg, Å. (Åke), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Broeks, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Canisius, S. (Sander), Campa, D. (Daniele), Carter, B.D. (Brian D.), Carter, J. (Jonathan), Castelao, J.E. (Jose ), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Christiansen, H. (Hans), Chung, W. (Wendy), Claes, K.B.M. (Kathleen B. M.), Clarke, C. (Christine), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon S.), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary), de la Hoya, M. (Miguel), De Leeneer, K. (Kim), Dennis, J. (Joe), Devilee, P. (Peter), Diez, O. (Orland), Domchek, S.M. (Susan), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Dunning, A.M. (Alison M.), Dwek, M. (Miriam), Eccles, D.M. (Diana M.), Ejlertsen, B. (Bent), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Friedman, E. (Eitan), Fritschi, L. (Lin), Frost, D. (Debra), Gabrielson, M. (Marike), Ganz, P.A. (Patricia A.), Gapstur, S.M. (Susan M.), Garber, J. (Judy), García-Closas, M. (Montserrat), García-Sáenz, J.A. (José A.), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Glendon, G. (Gord), Godwin, A.K. (Andrew), Goldberg, M.S. (Mark), Radice, P. (Paolo), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hake, C. (Christopher), He, W. (Wei), Heyworth, J. (Jane), Hogervorst, F.B.L. (Frans B.L.), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje J.), Hoover, R.N. (Robert), Hopper, J.L. (John), Huang, G. (Guanmengqian), Hulick, P.J. (Peter J.), Humphreys, K. (Keith), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, M. (Margaret), Janavicius, R. (Ramunas), Jankowitz, R.C. (Rachel C.), John, E.M. (Esther), Johnson, N. (Nichola), Joseph, V. (Vijai), Jung, A. (Audrey), Karlan, B.Y. (Beth), Khusnutdinova, E.K. (Elza), Kiiski, J.I. (Johanna I.), Konstantopoulou, I. (Irene), Kristensen, V. (Vessela), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Leroux, D. (Dominique), Leslie, G. (Goska), Lester, J. (Jenny), Lesueur, F. (Fabienne), Lindor, N.M. (Noralane), Lindström, S. (Sara), Lo, W.-Y. (Wing-Yee), Loud, J.T. (Jennifer T.), Lubinski, J. (Jan), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J.W.M. (John), Martinez, M.E. (Maria E.), Matricardi, L. (Laura), Maurer, T. (Tabea), Mavroudis, D. (Dimitris), McGuffog, L. (Lesley), Meindl, A. (Alfons), Menon, U. (Usha), Michailidou, K. (Kyriaki), Kapoor, P.M. (Pooja M.), Miller, A. (Austin), Montagna, M. (Marco), Moreno, F. (Fernando), Moserle, L. (Lidia), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru A.), Nathanson, K.L. (Katherine), Floris, O.A.M., Nevanlinna, H. (Heli), Nevelsteen, I. (Ines), Nielsen, F. (Finn), Nikitina-Zake, L. (Liene), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olofunmilayo), Olsson, H. (Håkan), Osorio, A. (Ana), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. (Marilyn), Pedersen, I.S. (Inge S.), Peixoto, A. (Ana), Peterlongo, P. (Paolo), Peto, J. (Julian), Pharoah, P.D.P. (Paul), Phillips, K.-A. (Kelly-Anne), Plaseska-Karanfilska, D. (Dijana), Poppe, B. (Bruce), Pradhan, N. (Nisha), Prajzendanc, K. (Karolina), Presneau, N. (Nadege), Punie, K. (Kevin), Pylkäs, K. (Katri), Rantala, J. (Johanna), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Risch, H.A. (Harvey A.), Robson, M. (Mark), Romero, A. (Atocha), Saloustros, E. (Emmanouil), Sandler, D.P. (Dale P.), Santos, C. (Catarina), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmidt, D.F. (Daniel), Schmutzler, R.K. (Rita), Schoemaker, M.J. (Minouk J.), Scott, R.J. (Rodney), Sharma, P. (Priyanka), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Singer, C.F. (Christian), Skytte, A.-B. (Anne-Bine), Soucy, P. (Penny), Southey, M.C. (Melissa), Spinelli, J.J. (John J.), Spurdle, A.B. (Amanda), Stone, J. (Jennifer), Swerdlow, A.J. (Anthony ), Tapper, W.J. (William J.), Taylor, J.A. (Jack A.), Teixeira, P.J., Terry, M.B. (Mary Beth), Teulé, A. (Alex), Thomassen, M. (Mads), Thöne, K. (Kathrin), Thull, D.L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Torres, D. (Diana), Truong, T. (Thérèse), Tung, N. (Nadine), Vachon, C. (Celine), van Asperen, C.J. (Christi J.), Ouweland, A.M.W. (Ans) van den, Rensburg, E.J. (Elizabeth) van, Vega, A. (Ana), Viel, A. (Alessandra), Vieiro-Balo, P. (Paula), Wang, Q. (Qin), Wappenschmidt, B. (Barbara), Weinberg, C.R. (Clarice R.), Weitzel, J.N. (Jeffrey), Wendt, C. (Camilla), Winqvist, R. (Robert), Yang, X.R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Ziogas, A. (Argyrios), Milne, R.L. (Roger), Adamo, P. (Pio) d', Chenevix-Trench, G. (Georgia), Zheng, W. (Wei), Kraft, P. (Peter), and Jiang, X. (Xia)
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.
Published: 2020
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5. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Author: Escala-Garcia, M. (Maria), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Ashworth, A. (Alan), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Beckmann, M. W. (Matthias W.), Beesley, J. (Jonathan), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W. (William), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Giles, G. G. (Graham G.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Guo, Q. (Qi), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hiller, L. (Louise), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, C.-S. (Chiun-Sheng), Huang, G. (Guanmengqian), Hunter, D. J. (David J.), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Peterlongo, P. (Paolo), Petridis, C. (Christos), Prentice, R. L. (Ross L.), Presneau, N. (Nadege), Punie, K. (Kevin), Ramachandran, D. (Dhanya), Rennert, G. (Gad), Romero, A. (Atocha), Sachchithananthan, M. (Mythily), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schwentner, L. (Lukas), Scott, C. (Christopher), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Thorne, H. (Heather), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Turnbull, C. (Clare), Vachon, C. M. (Celine M.), van der Kolk, L. E. (Lizet E.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Hall, P. (Per), Wessels, L. F. (Lodewyk F. A.), Chenevix-Trench, G. (Georgia), Bader, G. D. (Gary D.), Doerk, T. (Thilo), Easton, D. F. (Douglas F.), Canisius, S. (Sander), Schmidt, M. K. (Marjanka K.), Escala-Garcia, M. (Maria), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Ashworth, A. (Alan), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Beckmann, M. W. (Matthias W.), Beesley, J. (Jonathan), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W. (William), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Giles, G. G. (Graham G.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Guo, Q. (Qi), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hiller, L. (Louise), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, C.-S. (Chiun-Sheng), Huang, G. (Guanmengqian), Hunter, D. J. (David J.), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Peterlongo, P. (Paolo), Petridis, C. (Christos), Prentice, R. L. (Ross L.), Presneau, N. (Nadege), Punie, K. (Kevin), Ramachandran, D. (Dhanya), Rennert, G. (Gad), Romero, A. (Atocha), Sachchithananthan, M. (Mythily), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schwentner, L. (Lukas), Scott, C. (Christopher), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Thorne, H. (Heather), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Turnbull, C. (Clare), Vachon, C. M. (Celine M.), van der Kolk, L. E. (Lizet E.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Hall, P. (Per), Wessels, L. F. (Lodewyk F. A.), Chenevix-Trench, G. (Georgia), Bader, G. D. (Gary D.), Doerk, T. (Thilo), Easton, D. F. (Douglas F.), Canisius, S. (Sander), and Schmidt, M. K. (Marjanka K.)
Abstract: Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies ~7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis.
Published: 2020

6. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M. (Maria), Guo, Q. (Qi), Doerk, T. (Thilo), Canisius, S. (Sander), Keeman, R. (Renske), Dennis, J. (Joe), Beesley, J. (Jonathan), Lecarpentier, J. (Julie), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brentnall, A. (Adam), Brinton, L. (Louise), Broberg, P. (Per), Brock, I. W. (Ian W.), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Caldes, T. (Trinidad), Campa, D. (Daniele), Canzian, F. (Federico), Carracedo, A. (Angel), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Cheng, T. D. (Ting-Yuan David), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Cordina-Duverger, E. (Emilie), Couch, F. J. (Fergus J.), Cox, D. G. (David G.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Durcan, L. (Lorraine), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Galle, E. (Eva), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Glendon, G. (Gord), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Harkness, E. F. (Elaine F.), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hillemanns, P. (Peter), Hiller, L. (Louise), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kaczmarek, K. (Katarzyna), Kerin, M. J. (Michael J.), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Kitahara, C. M. (Cari M.), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Li, L. (Lian), Lindblom, A. (Annika), Lindstrom, S. (Sara), Linet, M. (Martha), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maierthaler, M. (Melanie), Maishman, T. (Tom), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, N. (Nicola), Milne, R. L. (Roger L.), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Nassir, R. (Rami), Neuhausen, S. L. (Susan L.), Newman, W. T. (William T.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Petridis, C. (Christos), Pinchev, M. (Mila), Prajzendanc, K. (Karoliona), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofieva, D. (Darya), Pylkas, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Ramachandran, D. (Dhanya), Rennert, G. (Gadi), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schwentner, L. (Lukas), Scott, R. J. (Rodney J.), Scott, C. (Christopher), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Smeets, A. (Ann), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Talhouk, A. (Aline), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Tengstrom, M. (Maria), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Therese), Turman, C. (Constance), Turnbull, C. (Clare), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. (Celine), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van Veen, E. M. (Elke M.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zhang, Y. (Yan), Easton, D. F. (Douglas F.), Fasching, P. A. (Peter A.), Nevanlinna, H. (Heli), Eccles, D. M. (Diana M.), Pharoah, P. D. (Paul D. P.), and Schmidt, M. K. (Marjanka K.)
Abstract: Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Results: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10−8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10−7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84–0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10−7, HR = 1.27, 95% CI = 1.16–1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusions: We uncovered germline variants on chromosome 7 at BFDP
Published: 2019

7. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M., Guo, Q, Dork, T., Canisius, S. (Sander), Keeman, J.N., Dennis, J. (Joe), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje), Koppert, L.B. (Linetta), Seynaeve, C.M. (Caroline), Ouweland, A.M.W. (Ans) van den, Escala-Garcia, M., Guo, Q, Dork, T., Canisius, S. (Sander), Keeman, J.N., Dennis, J. (Joe), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje), Koppert, L.B. (Linetta), Seynaeve, C.M. (Caroline), and Ouweland, A.M.W. (Ans) van den
Abstract: BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.
Published: 2019
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8. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

Author: Hamdi, Y. (Yosr), Soucy, P. (Penny), Adoue, V. (Véronique), Michailidou, K. (Kyriaki), Canisius, S. (Sander), Lemaçon, A. (Audrey), Droit, A. (Arnaud), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Baynes, C. (Caroline), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Goldberg, M.S. (Mark), González-Neira, A. (Anna), Grenaker Alnæs, G. (Grethe), Guénel, P. (Pascal), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hamann, U. (Ute), Hallberg, E. (Emily), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jones, M. (Michael), Kabisch, M. (Maria), Kataja, V. (Vesa), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Maranian, M. (Melanie), Margolin, S. (Sara), Marme, F. (Frederik), Milne, R.L. (Roger), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olswold, C. (Curtis), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Pykäs, K. (Katri), Radice, P. (Paolo), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Wang, Q. (Qin), Winqvist, R. (Robert), Zheng, W. (Wei), Benítez, J. (Javier), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Kristensen, V. (Vessela), Hall, P. (Per), Easton, D.F. (Douglas), Pastinen, T. (Tomi), Nord, S. (Silje), Simard, J. (Jacques), Hamdi, Y. (Yosr), Soucy, P. (Penny), Adoue, V. (Véronique), Michailidou, K. (Kyriaki), Canisius, S. (Sander), Lemaçon, A. (Audrey), Droit, A. (Arnaud), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Baynes, C. (Caroline), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Goldberg, M.S. (Mark), González-Neira, A. (Anna), Grenaker Alnæs, G. (Grethe), Guénel, P. (Pascal), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hamann, U. (Ute), Hallberg, E. (Emily), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jones, M. (Michael), Kabisch, M. (Maria), Kataja, V. (Vesa), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Maranian, M. (Melanie), Margolin, S. (Sara), Marme, F. (Frederik), Milne, R.L. (Roger), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olswold, C. (Curtis), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Pykäs, K. (Katri), Radice, P. (Paolo), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Wang, Q. (Qin), Winqvist, R. (Robert), Zheng, W. (Wei), Benítez, J. (Javier), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Kristensen, V. (Vessela), Hall, P. (Per), Easton, D.F. (Douglas), Pastinen, T. (Tomi), Nord, S. (Silje), and Simard, J. (Jacques)
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 disequilib
Published: 2016
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9. A novel independence test for somatic alterations in cancer shows that biology drives mutual exclusivity but chance explains most co-occurrence

Author: Canisius, S. (Sander), Martens, J.W.M. (John), Wessels, L. (Lodewyk), Canisius, S. (Sander), Martens, J.W.M. (John), and Wessels, L. (Lodewyk)
Abstract: In cancer, mutually exclusive or co-occurring somatic alterations across genes can suggest functional interactions. Existing tests for such patterns make the unrealistic assumption of identical gene alteration probabilities across tumors. We present Discrete Independence Statistic Controlling for Observations with Varying Event Rates (DISCOVER), a novel test that is more sensitive than other methods and controls its
Published: 2016
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10. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

Author: Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), French, J.D. (Juliet), Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), and French, J.D. (Juliet)
Abstract: Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER+: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10-44) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10-4) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10-5]) and five variants composing iCHAV3 (lead rs11949391; ER+: OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10-4). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.
Published: 2015
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11. Identification of novel genetic markers of breast cancer survival

Author: Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Kraft, P. (Peter), Canisius, S. (Sander), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Kar, S. (Siddhartha), Beesley, J. (Jonathan), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham G.), Milne, R.L. (Roger L.), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Holleczek, B. (B.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Mariani, P. (Paolo), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Silje), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Berg, C.D. (Christine), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Hall, P. (Per), Easton, D.F. (Douglas), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Pharoah, P.D.P. (Paul), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Kraft, P. (Peter), Canisius, S. (Sander), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Kar, S. (Siddhartha), Beesley, J. (Jonathan), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham G.), Milne, R.L. (Roger L.), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Holleczek, B. (B.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Mariani, P. (Paolo), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Silje), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Berg, C.D. (Christine), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Hall, P. (Per), Easton, D.F. (Douglas), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), and Pharoah, P.D.P. (Paul)
Abstract: Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival. Methods: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)-negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided. Results: We identified one new locus (rs2059614 at 11q24.2) associated with survival in ER-negative breast cancer cases (hazard ratio [HR] = 1.95, 95% confidence interval [CI] = 1.55 to 2.47, P = 1.91 x 10-8). Genotyping a subset of 2113 case patients, of which 300 were ER negative, provided supporting evidence for the quality of the imputation. The association in this set of case patients was stronger for the observed genotypes than for the imputed genotypes. A second locus (rs148760487 at 2q24.2) was associated at genome-wide statistical significance in initial analyses; the association was similar in ER-positive and ER-negative case patients. Here the results of genotyping suggested that the finding was less robust. Conclusions: This is currently the largest study investigating genetic variation associated with breast cancer survival. Our results have potential clinical implications, as they confirm that germline genotype can provide prognostic information in addition to standard tumor prognostic factors.
Published: 2015
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12. Common germline polymorphisms associated with breast cancer-specific survival

Author: Pirie, A. (Ailith), Guo, Q. (Qi), Kraft, P. (Peter), Canisius, S. (Sander), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., van Ongeval, C. (Chantal), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Olsen, J.E. (Janet E.), Hallberg, B. (Boubou), Vachon, C. (Celine), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Broeks, A. (Annegien), Cornelissen, S. (Sten), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Frederick), Le Marchand, L. (Loic), Hopper, J.L. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Butterbach, K. (Katja), Holleczek, B. (B.), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Ficarazzi, F. (Filomena), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Siljie), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Poole, C.J. (Christopher J.), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Yang, R. (Rose), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Mannermaa, A. (Arto), Andrulis, I.L. (Irene), Hall, P. (Per), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Bojesen, S.E. (Stig), Cox, A. (Angela), Fasching, P.A. (Peter), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Pirie, A. (Ailith), Guo, Q. (Qi), Kraft, P. (Peter), Canisius, S. (Sander), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., van Ongeval, C. (Chantal), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Olsen, J.E. (Janet E.), Hallberg, B. (Boubou), Vachon, C. (Celine), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Broeks, A. (Annegien), Cornelissen, S. (Sten), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Frederick), Le Marchand, L. (Loic), Hopper, J.L. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Butterbach, K. (Katja), Holleczek, B. (B.), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Ficarazzi, F. (Filomena), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Siljie), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Poole, C.J. (Christopher J.), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Yang, R. (Rose), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Mannermaa, A. (Arto), Andrulis, I.L. (Irene), Hall, P. (Per), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Bojesen, S.E. (Stig), Cox, A. (Angela), Fasching, P.A. (Peter), Pharoah, P.D.P. (Paul), and Schmidt, M.K. (Marjanka)
Abstract: Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10-8), these results suggest that there is some evidence of association between candidate common germline variants an
Published: 2015
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13. Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

Author: Darabi, H. (Hatef), McCue, K. (Karen), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Nord, S. (Silje), Kar, S. (Siddhartha), Humphreys, K. (Keith), Thompson, D. (Deborah), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Canisius, S. (Sander), Scott, C.G. (Christopher G.), Apicella, C. (Carmel), Hopper, J. (John), Southey, M.C. (Melissa), Stone, J. (Jennifer), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Scott, R.J. (Rodney J.), Lophatananon, A. (Artitaya), Muir, K.R. (K.), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Fasching, P.A. (Peter), Heusinger, K. (Katharina), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Tomlinson, I.P. (Ian), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Marme, F. (Federick), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Arndt, V. (Volker), Brenner, H. (Hermann), Engel, C. (Christoph), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Arnold, N. (Norbert), Brauch, H. (Hiltrud), Hamann, U. (Ute), Chang-Claude, J. (Jenny), Khan, S. (Sofia), Nevanlinna, H. (Heli), Ito, H. (Hidemi), Matsuo, K. (Keitaro), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Kosma, V-M. (Veli-Matti), Mannermaa, A. (Arto), Tseng, C.-C. (Chiu-chen), Wu, A.H. (Anna H.), Floris, O.A.M., Lambrechts, D. (Diether), Rudolph, A. (Anja), Peterlongo, P. (Paolo), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Giles, G.G. (Graham G.), McLean, C.A. (Catriona Ann), Milne, R.L. (Roger L.), Dugué, P.-A. (Pierre-Antoine), Haiman, C.A. (Christopher), Maskarinec, G. (Gertraud), Woolcott, C. (Christy), Henderson, B.E. (Brian), Goldberg, M.S. (Mark), Simard, J. (Jacques), Teo, S.-H. (Soo-Hwang), Mariapun, S. (Shivaani), Helland, Å. (Åslaug), Haakensen, V. (Vilde), Zheng, W. (Wei), Beeghly-Fadiel, A. (Alicia), Tamimi, R. (Rulla), Jukkola-Vuorinen, A. (Arja), Winqvist, R. (Robert), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Czene, K. (Kamila), Hooning, M.J. (Maartje), Tilanus-Linthorst, M.M.A. (Madeleine), Li, J. (J.), Gao, Y.-T. (Yu-Tang), Shu, X.-O. (Xiao-Ou), Cox, A. (Angela), Cross, S.S. (Simon), Luben, R.N. (Robert), Khaw, K.T., Choi, J.-Y. (J.), Kang, D. (Daehee), Hartman, J.M. (Joost), Lim, W.-Y. (Wei-Yen), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), McKay, J.D. (James), Sangrajrang, S. (Suleeporn), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Ziogas, A. (Argyrios), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Borresen-Dale, A.-L. (Anne-Lise), Kristensen, V. (Vessela), French, J.D. (Juliet), Edwards, S.L. (Stacey), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Hall, P. (Per), Chenevix-Trench, G. (Georgia), Darabi, H. (Hatef), McCue, K. (Karen), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Nord, S. (Silje), Kar, S. (Siddhartha), Humphreys, K. (Keith), Thompson, D. (Deborah), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Canisius, S. (Sander), Scott, C.G. (Christopher G.), Apicella, C. (Carmel), Hopper, J. (John), Southey, M.C. (Melissa), Stone, J. (Jennifer), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Scott, R.J. (Rodney J.), Lophatananon, A. (Artitaya), Muir, K.R. (K.), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Fasching, P.A. (Peter), Heusinger, K. (Katharina), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Tomlinson, I.P. (Ian), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Marme, F. (Federick), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Arndt, V. (Volker), Brenner, H. (Hermann), Engel, C. (Christoph), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Arnold, N. (Norbert), Brauch, H. (Hiltrud), Hamann, U. (Ute), Chang-Claude, J. (Jenny), Khan, S. (Sofia), Nevanlinna, H. (Heli), Ito, H. (Hidemi), Matsuo, K. (Keitaro), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Kosma, V-M. (Veli-Matti), Mannermaa, A. (Arto), Tseng, C.-C. (Chiu-chen), Wu, A.H. (Anna H.), Floris, O.A.M., Lambrechts, D. (Diether), Rudolph, A. (Anja), Peterlongo, P. (Paolo), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Giles, G.G. (Graham G.), McLean, C.A. (Catriona Ann), Milne, R.L. (Roger L.), Dugué, P.-A. (Pierre-Antoine), Haiman, C.A. (Christopher), Maskarinec, G. (Gertraud), Woolcott, C. (Christy), Henderson, B.E. (Brian), Goldberg, M.S. (Mark), Simard, J. (Jacques), Teo, S.-H. (Soo-Hwang), Mariapun, S. (Shivaani), Helland, Å. (Åslaug), Haakensen, V. (Vilde), Zheng, W. (Wei), Beeghly-Fadiel, A. (Alicia), Tamimi, R. (Rulla), Jukkola-Vuorinen, A. (Arja), Winqvist, R. (Robert), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Czene, K. (Kamila), Hooning, M.J. (Maartje), Tilanus-Linthorst, M.M.A. (Madeleine), Li, J. (J.), Gao, Y.-T. (Yu-Tang), Shu, X.-O. (Xiao-Ou), Cox, A. (Angela), Cross, S.S. (Simon), Luben, R.N. (Robert), Khaw, K.T., Choi, J.-Y. (J.), Kang, D. (Daehee), Hartman, J.M. (Joost), Lim, W.-Y. (Wei-Yen), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), McKay, J.D. (James), Sangrajrang, S. (Suleeporn), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Ziogas, A. (Argyrios), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Borresen-Dale, A.-L. (Anne-Lise), Kristensen, V. (Vessela), French, J.D. (Juliet), Edwards, S.L. (Stacey), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Hall, P. (Per), and Chenevix-Trench, G. (Georgia)
Abstract: Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) and ER-negative (OR = 0.87 [0.82-0.91]) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:D) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 [0.91-0.95] and OR = 1.06 [1.03-1.09]) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.13]) disease. There was weaker evidence for iCHAV4, located 5′ of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chrom
Published: 2015
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14. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Easton, D.F. (Douglas), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), and Easton, D.F. (Douglas)
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10 â '8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015
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15. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

Author: Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), Pilarski, R. (Robert), Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), and Pilarski, R. (Robert)
Abstract: Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P=2.51 × 10-4; OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P=1.86 × 10-4; OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk.
Published: 2015
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15 results on '"Canisius, S. (Sander)"'

1. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

2. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

3. Integrative analysis of genomic amplification-dependent expression and loss-of-function screen identifies ASAP1 as a driver gene in triple-negative breast cancer progression

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

5. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

6. Genome-wide association study of germline variants and breast cancer-specific mortality

7. Genome-wide association study of germline variants and breast cancer-specific mortality

8. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

9. A novel independence test for somatic alterations in cancer shows that biology drives mutual exclusivity but chance explains most co-occurrence

10. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

11. Identification of novel genetic markers of breast cancer survival

12. Common germline polymorphisms associated with breast cancer-specific survival

13. Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

14. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

15. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

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