Author: "Yao Song" / Publication Type: Electronic Resources - Searchworks@Jio Institute Digital Library Search Results

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77 results on '"Yao Song"'

1. Customer Acquisition via Explainable Deep Reinforcement Learning

Author: Song, Yicheng, Wang, Wenbo, Yao, Song, Song, Yicheng, Wang, Wenbo, and Yao, Song
Abstract: Effective customer acquisition heavily hinges on sequential targeting to ensure that appropriate marketing messages reach customers. Sequential targeting could guide customers through the acquisition process and thus, optimize long-term revenue for the firm. Toward this goal, reinforcement learning (RL) has demonstrated great potential in facilitating sequential targeting during user acquisition. However, decisions made by RL during this process often lack explainability. We introduce the deep recurrent Q -network with attention model, which optimizes the long-term reward of sequential targeting while enhancing the explainability of the decisions. The key idea of the proposed model is to revise Q -learning by adding an attention mechanism to create a bottleneck, forcing the model to focus on features of the next ad exposure that will lead to optimal long-term rewards. We estimate our model using a comprehensive data set from a digital bank. The empirical results show that the proposed model is explainable and also outperforms state-of-the-art methods in terms of longterm revenue optimization. Specifically, the attention mechanism within the model functions as forward planning. The forward planning can spot those features in the next ad exposure that are more likely to lead to the optimal outcome. We further demonstrate how the model makes targeting decisions of advertising channel choices by showing that the model can (1) learn optimal ad channels to target customers from different industries, (2) adjust advertising channels in response to dynamic customer behaviors, and (3) learn the seasonality of the customer's industry and calibrate the ad channel correspondingly.
Published: 2024

2. Tianyu: search for the second solar system and explore the dynamic universe

Author: Feng, Fabo, Rui, Yicheng, Du, Zhimao, Lin, Qing, Zhang, Congcong, Zhou, Dan, Cui, Kaiming, Ogihara, Masahiro, Yang, Ming, Lin, Jie, Cai, Yongzhi, Yang, Taozhi, Pang, Xiaoying, Jian, Mingjie, Li, Wenxiong, Guo, Hengxiao, Shi, Xian, Shi, Jianchun, Li, Jianyang, Guo, Kangrou, Yao, Song, Chen, Aming, Jia, Peng, Tan, Xianyu, Jenkins, James S., Jiang, Hongxuan, Zhang, Mingyuan, Li, Kexin, Xiao, Guangyao, Zheng, Shuyue, Xuan, Yifan, Zheng, Jie, He, Min, Jones, Hugh R. A., Song, Cuiying, Feng, Fabo, Rui, Yicheng, Du, Zhimao, Lin, Qing, Zhang, Congcong, Zhou, Dan, Cui, Kaiming, Ogihara, Masahiro, Yang, Ming, Lin, Jie, Cai, Yongzhi, Yang, Taozhi, Pang, Xiaoying, Jian, Mingjie, Li, Wenxiong, Guo, Hengxiao, Shi, Xian, Shi, Jianchun, Li, Jianyang, Guo, Kangrou, Yao, Song, Chen, Aming, Jia, Peng, Tan, Xianyu, Jenkins, James S., Jiang, Hongxuan, Zhang, Mingyuan, Li, Kexin, Xiao, Guangyao, Zheng, Shuyue, Xuan, Yifan, Zheng, Jie, He, Min, Jones, Hugh R. A., and Song, Cuiying
Abstract: Giant planets like Jupiter and Saturn, play important roles in the formation and habitability of Earth-like planets. The detection of solar system analogs that have multiple cold giant planets is essential for our understanding of planet habitability and planet formation. Although transit surveys such as Kepler and TESS have discovered thousands of exoplanets, these missions are not sensitive to long period planets due to their limited observation baseline. The Tianyu project, comprising two 1-meter telescopes (Tianyu-I and II), is designed to detect transiting cold giant planets in order to find solar system analogs. Featuring a large field of view and equipped with a high-speed CMOS camera, Tianyu-I will perform a high-precision photometric survey of about 100 million stars, measuring light curves at hour-long cadence. The candidates found by Tianyu-I will be confirmed by Tianyu-II and other surveys and follow-up facilities through multi-band photometry, spectroscopy, and high resolution imaging. Tianyu telescopes will be situated at an elevation about 4000 meters in Lenghu, China. With a photometric precision of 1% for stars with V < 18 mag, Tianyu is expected to find more than 300 transiting exoplanets, including about 12 cold giant planets, over five years. A five-year survey of Tianyu would discover 1-2 solar system analogs. Moreover, Tianyu is also designed for non-exoplanetary exploration, incorporating multiple survey modes covering timescales from sub-seconds to months, with a particular emphasis on events occurring within the sub-second to hour range. It excels in observing areas such as infant supernovae, rare variable stars and binaries, tidal disruption events, Be stars, cometary activities, and interstellar objects. These discoveries not only enhance our comprehension of the universe but also offer compelling opportunities for public engagement in scientific exploration., Comment: 48 pages, 16 figures, accepted by Acta Astronomica Sinica
Published: 2024

3. Hypothetical Interventions on Diet Quality and Lifestyle Factors to Improve Breast Cancer Survival: The Pathways Study.

Author: Ergas, Isaac, Ergas, Isaac, Bradshaw, Patrick, Cespedes Feliciano, Elizabeth, Roh, Janise, Kwan, Marilyn, Yao, Song, Thomsen, Catherine, Kushi, Lawrence, Laraia, Barbara, Madsen, Kristine, Ergas, Isaac, Ergas, Isaac, Bradshaw, Patrick, Cespedes Feliciano, Elizabeth, Roh, Janise, Kwan, Marilyn, Yao, Song, Thomsen, Catherine, Kushi, Lawrence, Laraia, Barbara, and Madsen, Kristine
Abstract: BACKGROUND: The number of breast cancer survivors is increasing, yet evidence to inform dietary and lifestyle guidelines is limited. METHODS: This analysis included 3,658 participants from the Pathways Study, a prospective cohort of women diagnosed with invasive breast cancer. A healthy plant-based dietary index score (hPDI), an American Cancer Society (ACS) nutrition guidelines score, a 2015 Healthy Eating Index score (HEI), hours per week of moderate to vigorous physical activity (PA), and lifetime cumulative pack-years of cigarette smoking (SM) were each measured at diagnosis, 6, 24, and 72 months. Using g-computation, 5- and 10-year risk ratios (RR), risk differences, and 95% confidence intervals (CI) for all-cause mortality under hypothetical interventions on diet quality, PA, and SM, compared with the natural course (no intervention) were calculated. RESULTS: Hypothetical moderate to extreme interventions on hPDI, ACS, and HEI, each in combination with PA and SM, showed 11% to 56%, 9% to 38%, and 9% to 49% decreases in 5-year risks of all-cause mortality compared with no intervention, respectively [(hPDI: RRmoderate = 0.89, 95% CI: 0.82-0.94; RRextreme = 0.44, 95% CI: 0.26-0.67), (ACS: RRmoderate = 0.91, 95% CI: 0.85-0.96; RRextreme = 0.62, 95% CI: 0.43-0.82), (HEI: RRmoderate = 0.91, 95% CI: 0.84-0.95; RRextreme = 0.51, 95% CI: 0.33-0.72)]. While 10-year relative risks were slightly attenuated, absolute risk reductions were more pronounced. CONCLUSIONS: Interventions to improve diet quality, increase PA, or reduce SM at the time of diagnosis may improve survival among breast cancer survivors. IMPACT: We estimate that over 10% of deaths could be delayed by even moderate adoption of these behaviors.
Published: 2023

4. Development and testing of a polygenic risk score for breast cancer aggressiveness.

Author: Shieh, Yiwey, Shieh, Yiwey, Roger, Jacquelyn, Yau, Christina, Wolf, Denise M, Hirst, Gillian L, Swigart, Lamorna Brown, Huntsman, Scott, Hu, Donglei, Nierenberg, Jovia L, Middha, Pooja, Heise, Rachel S, Shi, Yushu, Kachuri, Linda, Zhu, Qianqian, Yao, Song, Ambrosone, Christine B, Kwan, Marilyn L, Caan, Bette J, Witte, John S, Kushi, Lawrence H, 't Veer, Laura van, Esserman, Laura J, Ziv, Elad, Shieh, Yiwey, Shieh, Yiwey, Roger, Jacquelyn, Yau, Christina, Wolf, Denise M, Hirst, Gillian L, Swigart, Lamorna Brown, Huntsman, Scott, Hu, Donglei, Nierenberg, Jovia L, Middha, Pooja, Heise, Rachel S, Shi, Yushu, Kachuri, Linda, Zhu, Qianqian, Yao, Song, Ambrosone, Christine B, Kwan, Marilyn L, Caan, Bette J, Witte, John S, Kushi, Lawrence H, 't Veer, Laura van, Esserman, Laura J, and Ziv, Elad
Abstract: Aggressive breast cancers portend a poor prognosis, but current polygenic risk scores (PRSs) for breast cancer do not reliably predict aggressive cancers. Aggressiveness can be effectively recapitulated using tumor gene expression profiling. Thus, we sought to develop a PRS for the risk of recurrence score weighted on proliferation (ROR-P), an established prognostic signature. Using 2363 breast cancers with tumor gene expression data and single nucleotide polymorphism (SNP) genotypes, we examined the associations between ROR-P and known breast cancer susceptibility SNPs using linear regression models. We constructed PRSs based on varying p-value thresholds and selected the optimal PRS based on model r2 in 5-fold cross-validation. We then used Cox proportional hazards regression to test the ROR-P PRS's association with breast cancer-specific survival in two independent cohorts totaling 10,196 breast cancers and 785 events. In meta-analysis of these cohorts, higher ROR-P PRS was associated with worse survival, HR per SD = 1.13 (95% CI 1.06-1.21, p = 4.0 × 10-4). The ROR-P PRS had a similar magnitude of effect on survival as a comparator PRS for estrogen receptor (ER)-negative versus positive cancer risk (PRSER-/ER+). Furthermore, its effect was minimally attenuated when adjusted for PRSER-/ER+, suggesting that the ROR-P PRS provides additional prognostic information beyond ER status. In summary, we used integrated analysis of germline SNP and tumor gene expression data to construct a PRS associated with aggressive tumor biology and worse survival. These findings could potentially enhance risk stratification for breast cancer screening and prevention.
Published: 2023

5. ENIGMA CHEK2gether Project:A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek, Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, and Kleibl, Zdenek
Abstract: Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with n, Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ~ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N ¼ 102), functionally intermediate (N ¼ 12), or functionally wild-type (WT)–like (N ¼ 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk
Published: 2023

6. ENIGMA CHEK2gether Project:A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author: Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek, Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, and Kleibl, Zdenek
Abstract: Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with n, Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ~ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N ¼ 102), functionally intermediate (N ¼ 12), or functionally wild-type (WT)–like (N ¼ 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk
Published: 2023

7. Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.

Author: Adedokun, Babatunde, Adedokun, Babatunde, Du, Zhaohui, Gao, Guimin, Ahearn, Thomas U, Lunetta, Kathryn L, Zirpoli, Gary, Figueroa, Jonine, John, Esther M, Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J, Ziegler, Regina G, Nyante, Sarah, Bandera, Elisa V, Ingles, Sue A, Press, Michael F, Deming-Halverson, Sandra L, Rodriguez-Gil, Jorge L, Yao, Song, Ogundiran, Temidayo O, Ojengbede, Oladosu, Blot, William, Troester, Melissa A, Nathanson, Katherine L, Hennis, Anselm, Nemesure, Barbara, Ambs, Stefan, Fiorica, Peter N, Sucheston-Campbell, Lara E, Bensen, Jeannette T, Kushi, Lawrence H, Torres-Mejia, Gabriela, Hu, Donglei, Fejerman, Laura, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Sandler, Dale P, Taylor, Jack A, O'Brien, Katie M, Kitahara, Cari M, Falusi, Adeyinka G, Babalola, Chinedum, Yarney, Joel, Awuah, Baffour, Addai-Wiafe, Beatrice, GBHS Study Team, Chanock, Stephen J, Olshan, Andrew F, Ambrosone, Christine B, Conti, David V, Ziv, Elad, Olopade, Olufunmilayo I, Garcia-Closas, Montserrat, Palmer, Julie R, Haiman, Christopher A, Huo, Dezheng, Adedokun, Babatunde, Adedokun, Babatunde, Du, Zhaohui, Gao, Guimin, Ahearn, Thomas U, Lunetta, Kathryn L, Zirpoli, Gary, Figueroa, Jonine, John, Esther M, Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J, Ziegler, Regina G, Nyante, Sarah, Bandera, Elisa V, Ingles, Sue A, Press, Michael F, Deming-Halverson, Sandra L, Rodriguez-Gil, Jorge L, Yao, Song, Ogundiran, Temidayo O, Ojengbede, Oladosu, Blot, William, Troester, Melissa A, Nathanson, Katherine L, Hennis, Anselm, Nemesure, Barbara, Ambs, Stefan, Fiorica, Peter N, Sucheston-Campbell, Lara E, Bensen, Jeannette T, Kushi, Lawrence H, Torres-Mejia, Gabriela, Hu, Donglei, Fejerman, Laura, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Sandler, Dale P, Taylor, Jack A, O'Brien, Katie M, Kitahara, Cari M, Falusi, Adeyinka G, Babalola, Chinedum, Yarney, Joel, Awuah, Baffour, Addai-Wiafe, Beatrice, GBHS Study Team, Chanock, Stephen J, Olshan, Andrew F, Ambrosone, Christine B, Conti, David V, Ziv, Elad, Olopade, Olufunmilayo I, Garcia-Closas, Montserrat, Palmer, Julie R, Haiman, Christopher A, and Huo, Dezheng
Abstract: Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193 controls), then meta-analyze with European ancestry GWAS data (122977 cases and 105974 controls) from the Breast Cancer Association Consortium. The approach identifies four loci for overall breast cancer risk [1p13.3, 5q31.1, 15q24 (two independent signals), and 15q26.3] and two loci for estrogen receptor-negative disease (1q41 and 7q11.23) at genome-wide significance. Four of the index single nucleotide polymorphisms (SNPs) lie within introns of genes (KCNK2, C5orf56, SCAMP2, and SIN3A) and the other index SNPs are located close to GSTM4, AMPD2, CASTOR2, and RP11-168G16.2. Here we present risk loci with consistent direction of associations in African and European descendants. The study suggests that replication across multiple ancestry populations can help improve the understanding of breast cancer genetics and identify causal variants.
Published: 2021

8. Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.

Author: Yadav, Siddhartha, Yadav, Siddhartha, Hu, Chunling, Nathanson, Katherine L, Weitzel, Jeffrey N, Goldgar, David E, Kraft, Peter, Gnanaolivu, Rohan D, Na, Jie, Huang, Hongyan, Boddicker, Nicholas J, Larson, Nicole, Gao, Chi, Yao, Song, Weinberg, Clarice, Vachon, Celine M, Trentham-Dietz, Amy, Taylor, Jack A, Sandler, Dale R, Patel, Alpa, Palmer, Julie R, Olson, Janet E, Neuhausen, Susan, Martinez, Elena, Lindstrom, Sara, Lacey, James V, Kurian, Allison W, John, Esther M, Haiman, Christopher, Bernstein, Leslie, Auer, Paul W, Anton-Culver, Hoda, Ambrosone, Christine B, Karam, Rachid, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Dolinsky, Jill S, Hart, Steven N, LaDuca, Holly, Polley, Eric C, Domchek, Susan M, Couch, Fergus J, Yadav, Siddhartha, Yadav, Siddhartha, Hu, Chunling, Nathanson, Katherine L, Weitzel, Jeffrey N, Goldgar, David E, Kraft, Peter, Gnanaolivu, Rohan D, Na, Jie, Huang, Hongyan, Boddicker, Nicholas J, Larson, Nicole, Gao, Chi, Yao, Song, Weinberg, Clarice, Vachon, Celine M, Trentham-Dietz, Amy, Taylor, Jack A, Sandler, Dale R, Patel, Alpa, Palmer, Julie R, Olson, Janet E, Neuhausen, Susan, Martinez, Elena, Lindstrom, Sara, Lacey, James V, Kurian, Allison W, John, Esther M, Haiman, Christopher, Bernstein, Leslie, Auer, Paul W, Anton-Culver, Hoda, Ambrosone, Christine B, Karam, Rachid, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Dolinsky, Jill S, Hart, Steven N, LaDuca, Holly, Polley, Eric C, Domchek, Susan M, and Couch, Fergus J
Abstract: PurposeTo determine the contribution of germline pathogenic variants (PVs) in hereditary cancer testing panel genes to invasive lobular carcinoma (ILC) of the breast.Materials and methodsThe study included 2,999 women with ILC from a population-based cohort and 3,796 women with ILC undergoing clinical multigene panel testing (clinical cohort). Frequencies of germline PVs in breast cancer predisposition genes (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, and TP53) were compared between women with ILC and unaffected female controls and between women with ILC and infiltrating ductal carcinoma (IDC).ResultsThe frequency of PVs in breast cancer predisposition genes among women with ILC was 6.5% in the clinical cohort and 5.2% in the population-based cohort. In case-control analysis, CDH1 and BRCA2 PVs were associated with high risks of ILC (odds ratio [OR] > 4) and CHEK2, ATM, and PALB2 PVs were associated with moderate (OR = 2-4) risks. BRCA1 PVs and CHEK2 p.Ile157Thr were not associated with clinically relevant risks (OR < 2) of ILC. Compared with IDC, CDH1 PVs were > 10-fold enriched, whereas PVs in BRCA1 were substantially reduced in ILC.ConclusionThe study establishes that PVs in ATM, BRCA2, CDH1, CHEK2, and PALB2 are associated with an increased risk of ILC, whereas BRCA1 PVs are not. The similar overall PV frequencies for ILC and IDC suggest that cancer histology should not influence the decision to proceed with genetic testing. Similar to IDC, multigene panel testing may be appropriate for women with ILC, but CDH1 should be specifically discussed because of low prevalence and gastric cancer risk.
Published: 2021

9. Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.

Author: Adedokun, Babatunde, Adedokun, Babatunde, Du, Zhaohui, Gao, Guimin, Ahearn, Thomas U, Lunetta, Kathryn L, Zirpoli, Gary, Figueroa, Jonine, John, Esther M, Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J, Ziegler, Regina G, Nyante, Sarah, Bandera, Elisa V, Ingles, Sue A, Press, Michael F, Deming-Halverson, Sandra L, Rodriguez-Gil, Jorge L, Yao, Song, Ogundiran, Temidayo O, Ojengbede, Oladosu, Blot, William, Troester, Melissa A, Nathanson, Katherine L, Hennis, Anselm, Nemesure, Barbara, Ambs, Stefan, Fiorica, Peter N, Sucheston-Campbell, Lara E, Bensen, Jeannette T, Kushi, Lawrence H, Torres-Mejia, Gabriela, Hu, Donglei, Fejerman, Laura, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Sandler, Dale P, Taylor, Jack A, O'Brien, Katie M, Kitahara, Cari M, Falusi, Adeyinka G, Babalola, Chinedum, Yarney, Joel, Awuah, Baffour, Addai-Wiafe, Beatrice, GBHS Study Team, Chanock, Stephen J, Olshan, Andrew F, Ambrosone, Christine B, Conti, David V, Ziv, Elad, Olopade, Olufunmilayo I, Garcia-Closas, Montserrat, Palmer, Julie R, Haiman, Christopher A, Huo, Dezheng, Adedokun, Babatunde, Adedokun, Babatunde, Du, Zhaohui, Gao, Guimin, Ahearn, Thomas U, Lunetta, Kathryn L, Zirpoli, Gary, Figueroa, Jonine, John, Esther M, Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J, Ziegler, Regina G, Nyante, Sarah, Bandera, Elisa V, Ingles, Sue A, Press, Michael F, Deming-Halverson, Sandra L, Rodriguez-Gil, Jorge L, Yao, Song, Ogundiran, Temidayo O, Ojengbede, Oladosu, Blot, William, Troester, Melissa A, Nathanson, Katherine L, Hennis, Anselm, Nemesure, Barbara, Ambs, Stefan, Fiorica, Peter N, Sucheston-Campbell, Lara E, Bensen, Jeannette T, Kushi, Lawrence H, Torres-Mejia, Gabriela, Hu, Donglei, Fejerman, Laura, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Sandler, Dale P, Taylor, Jack A, O'Brien, Katie M, Kitahara, Cari M, Falusi, Adeyinka G, Babalola, Chinedum, Yarney, Joel, Awuah, Baffour, Addai-Wiafe, Beatrice, GBHS Study Team, Chanock, Stephen J, Olshan, Andrew F, Ambrosone, Christine B, Conti, David V, Ziv, Elad, Olopade, Olufunmilayo I, Garcia-Closas, Montserrat, Palmer, Julie R, Haiman, Christopher A, and Huo, Dezheng
Abstract: Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193 controls), then meta-analyze with European ancestry GWAS data (122977 cases and 105974 controls) from the Breast Cancer Association Consortium. The approach identifies four loci for overall breast cancer risk [1p13.3, 5q31.1, 15q24 (two independent signals), and 15q26.3] and two loci for estrogen receptor-negative disease (1q41 and 7q11.23) at genome-wide significance. Four of the index single nucleotide polymorphisms (SNPs) lie within introns of genes (KCNK2, C5orf56, SCAMP2, and SIN3A) and the other index SNPs are located close to GSTM4, AMPD2, CASTOR2, and RP11-168G16.2. Here we present risk loci with consistent direction of associations in African and European descendants. The study suggests that replication across multiple ancestry populations can help improve the understanding of breast cancer genetics and identify causal variants.
Published: 2021

10. Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.

Author: Yadav, Siddhartha, Yadav, Siddhartha, Hu, Chunling, Nathanson, Katherine L, Weitzel, Jeffrey N, Goldgar, David E, Kraft, Peter, Gnanaolivu, Rohan D, Na, Jie, Huang, Hongyan, Boddicker, Nicholas J, Larson, Nicole, Gao, Chi, Yao, Song, Weinberg, Clarice, Vachon, Celine M, Trentham-Dietz, Amy, Taylor, Jack A, Sandler, Dale R, Patel, Alpa, Palmer, Julie R, Olson, Janet E, Neuhausen, Susan, Martinez, Elena, Lindstrom, Sara, Lacey, James V, Kurian, Allison W, John, Esther M, Haiman, Christopher, Bernstein, Leslie, Auer, Paul W, Anton-Culver, Hoda, Ambrosone, Christine B, Karam, Rachid, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Dolinsky, Jill S, Hart, Steven N, LaDuca, Holly, Polley, Eric C, Domchek, Susan M, Couch, Fergus J, Yadav, Siddhartha, Yadav, Siddhartha, Hu, Chunling, Nathanson, Katherine L, Weitzel, Jeffrey N, Goldgar, David E, Kraft, Peter, Gnanaolivu, Rohan D, Na, Jie, Huang, Hongyan, Boddicker, Nicholas J, Larson, Nicole, Gao, Chi, Yao, Song, Weinberg, Clarice, Vachon, Celine M, Trentham-Dietz, Amy, Taylor, Jack A, Sandler, Dale R, Patel, Alpa, Palmer, Julie R, Olson, Janet E, Neuhausen, Susan, Martinez, Elena, Lindstrom, Sara, Lacey, James V, Kurian, Allison W, John, Esther M, Haiman, Christopher, Bernstein, Leslie, Auer, Paul W, Anton-Culver, Hoda, Ambrosone, Christine B, Karam, Rachid, Chao, Elizabeth, Yussuf, Amal, Pesaran, Tina, Dolinsky, Jill S, Hart, Steven N, LaDuca, Holly, Polley, Eric C, Domchek, Susan M, and Couch, Fergus J
Abstract: PurposeTo determine the contribution of germline pathogenic variants (PVs) in hereditary cancer testing panel genes to invasive lobular carcinoma (ILC) of the breast.Materials and methodsThe study included 2,999 women with ILC from a population-based cohort and 3,796 women with ILC undergoing clinical multigene panel testing (clinical cohort). Frequencies of germline PVs in breast cancer predisposition genes (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, and TP53) were compared between women with ILC and unaffected female controls and between women with ILC and infiltrating ductal carcinoma (IDC).ResultsThe frequency of PVs in breast cancer predisposition genes among women with ILC was 6.5% in the clinical cohort and 5.2% in the population-based cohort. In case-control analysis, CDH1 and BRCA2 PVs were associated with high risks of ILC (odds ratio [OR] > 4) and CHEK2, ATM, and PALB2 PVs were associated with moderate (OR = 2-4) risks. BRCA1 PVs and CHEK2 p.Ile157Thr were not associated with clinically relevant risks (OR < 2) of ILC. Compared with IDC, CDH1 PVs were > 10-fold enriched, whereas PVs in BRCA1 were substantially reduced in ILC.ConclusionThe study establishes that PVs in ATM, BRCA2, CDH1, CHEK2, and PALB2 are associated with an increased risk of ILC, whereas BRCA1 PVs are not. The similar overall PV frequencies for ILC and IDC suggest that cancer histology should not influence the decision to proceed with genetic testing. Similar to IDC, multigene panel testing may be appropriate for women with ILC, but CDH1 should be specifically discussed because of low prevalence and gastric cancer risk.
Published: 2021

11. A Population-Based Study of Genes Previously Implicated in Breast Cancer.

Author: Hu, Chunling, Hu, Chunling, Hart, Steven N, Gnanaolivu, Rohan, Huang, Hongyan, Lee, Kun Y, Na, Jie, Gao, Chi, Lilyquist, Jenna, Yadav, Siddhartha, Boddicker, Nicholas J, Samara, Raed, Klebba, Josh, Ambrosone, Christine B, Anton-Culver, Hoda, Auer, Paul, Bandera, Elisa V, Bernstein, Leslie, Bertrand, Kimberly A, Burnside, Elizabeth S, Carter, Brian D, Eliassen, Heather, Gapstur, Susan M, Gaudet, Mia, Haiman, Christopher, Hodge, James M, Hunter, David J, Jacobs, Eric J, John, Esther M, Kooperberg, Charles, Kurian, Allison W, Le Marchand, Loic, Lindstroem, Sara, Lindstrom, Tricia, Ma, Huiyan, Neuhausen, Susan, Newcomb, Polly A, O'Brien, Katie M, Olson, Janet E, Ong, Irene M, Pal, Tuya, Palmer, Julie R, Patel, Alpa V, Reid, Sonya, Rosenberg, Lynn, Sandler, Dale P, Scott, Christopher, Tamimi, Rulla, Taylor, Jack A, Trentham-Dietz, Amy, Vachon, Celine M, Weinberg, Clarice, Yao, Song, Ziogas, Argyrios, Weitzel, Jeffrey N, Goldgar, David E, Domchek, Susan M, Nathanson, Katherine L, Kraft, Peter, Polley, Eric C, Couch, Fergus J, Hu, Chunling, Hu, Chunling, Hart, Steven N, Gnanaolivu, Rohan, Huang, Hongyan, Lee, Kun Y, Na, Jie, Gao, Chi, Lilyquist, Jenna, Yadav, Siddhartha, Boddicker, Nicholas J, Samara, Raed, Klebba, Josh, Ambrosone, Christine B, Anton-Culver, Hoda, Auer, Paul, Bandera, Elisa V, Bernstein, Leslie, Bertrand, Kimberly A, Burnside, Elizabeth S, Carter, Brian D, Eliassen, Heather, Gapstur, Susan M, Gaudet, Mia, Haiman, Christopher, Hodge, James M, Hunter, David J, Jacobs, Eric J, John, Esther M, Kooperberg, Charles, Kurian, Allison W, Le Marchand, Loic, Lindstroem, Sara, Lindstrom, Tricia, Ma, Huiyan, Neuhausen, Susan, Newcomb, Polly A, O'Brien, Katie M, Olson, Janet E, Ong, Irene M, Pal, Tuya, Palmer, Julie R, Patel, Alpa V, Reid, Sonya, Rosenberg, Lynn, Sandler, Dale P, Scott, Christopher, Tamimi, Rulla, Taylor, Jack A, Trentham-Dietz, Amy, Vachon, Celine M, Weinberg, Clarice, Yao, Song, Ziogas, Argyrios, Weitzel, Jeffrey N, Goldgar, David E, Domchek, Susan M, Nathanson, Katherine L, Kraft, Peter, Polley, Eric C, and Couch, Fergus J
Abstract: BackgroundPopulation-based estimates of the risk of breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for risk assessment and management in women with inherited pathogenic variants.MethodsIn a population-based case-control study, we performed sequencing using a custom multigene amplicon-based panel to identify germline pathogenic variants in 28 cancer-predisposition genes among 32,247 women with breast cancer (case patients) and 32,544 unaffected women (controls) from population-based studies in the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. Associations between pathogenic variants in each gene and the risk of breast cancer were assessed.ResultsPathogenic variants in 12 established breast cancer-predisposition genes were detected in 5.03% of case patients and in 1.63% of controls. Pathogenic variants in BRCA1 and BRCA2 were associated with a high risk of breast cancer, with odds ratios of 7.62 (95% confidence interval [CI], 5.33 to 11.27) and 5.23 (95% CI, 4.09 to 6.77), respectively. Pathogenic variants in PALB2 were associated with a moderate risk (odds ratio, 3.83; 95% CI, 2.68 to 5.63). Pathogenic variants in BARD1, RAD51C, and RAD51D were associated with increased risks of estrogen receptor-negative breast cancer and triple-negative breast cancer, whereas pathogenic variants in ATM, CDH1, and CHEK2 were associated with an increased risk of estrogen receptor-positive breast cancer. Pathogenic variants in 16 candidate breast cancer-predisposition genes, including the c.657_661del5 founder pathogenic variant in NBN, were not associated with an increased risk of breast cancer.ConclusionsThis study provides estimates of the prevalence and risk of breast cancer associated with pathogenic variants in known breast cancer-predisposition genes in the U.S. population. These estimates can inform cancer testing and screening and improve clinical management strategies for women in the g
Published: 2021

12. Robust optimization Design of a New Combined Median Barrier Based on Taguchi method and Grey Relational Analysis

Author: Huang, Yupeng, Yao, Song, Chen, Peng, Lei, Zhengbao, Gan, Xinzhong, Gan, Youwei, Huang, Yupeng, Yao, Song, Chen, Peng, Lei, Zhengbao, Gan, Xinzhong, and Gan, Youwei
Abstract: Accidents that vehicles cross median and enter opposite lane happen frequently, and the existing median barrier has weak anti-collision strength. A new combined median barrier (NCMB) consisted of W-beam guardrail and concrete structure was proposed to decrease deformation and enhance anti-collision strength in this paper. However, there were some uncertainties in the initial design of the NCMB. If the uncertainties were not considered in the design process, the optimization objectives were especially sensitive to the small fluctuation of the variables, and it might result in design failure. For this purpose, the acceleration and deflection were taken as objectives; post thickness, W-beam thickness and post spacing were chosen as design variables; the velocity, mass of vehicle and the yield stress of barrier components were taken as noise factors, a multi-objective robust optimization is carried out for the NCMB based on Taguchi and grey relational analysis (GRA). The results indicate that the acceleration and deflection after optimization are reduced by 47.3% and 76.7% respectively; Signal-to-noise ratio (SNR) of objectives after optimization are increased, it greatly enhances the robustness of the NCMB. The results demonstrate that the effectiveness of the methodology that based on Taguchi method and grey relational analysis.
Published: 2021

13. Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

Author: Palmer, Julie R, Palmer, Julie R, Polley, Eric C, Hu, Chunling, John, Esther M, Haiman, Christopher, Hart, Steven N, Gaudet, Mia, Pal, Tuya, Anton-Culver, Hoda, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine B, Bandera, Elisa V, Bertrand, Kimberly A, Bethea, Traci N, Gao, Chi, Gnanaolivu, Rohan D, Huang, Hongyan, Lee, Kun Y, LeMarchand, Loic, Na, Jie, Sandler, Dale P, Shah, Payal D, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey N, Domchek, Susan M, Goldgar, David E, Nathanson, Katherine L, Kraft, Peter, Yao, Song, Couch, Fergus J, Palmer, Julie R, Palmer, Julie R, Polley, Eric C, Hu, Chunling, John, Esther M, Haiman, Christopher, Hart, Steven N, Gaudet, Mia, Pal, Tuya, Anton-Culver, Hoda, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine B, Bandera, Elisa V, Bertrand, Kimberly A, Bethea, Traci N, Gao, Chi, Gnanaolivu, Rohan D, Huang, Hongyan, Lee, Kun Y, LeMarchand, Loic, Na, Jie, Sandler, Dale P, Shah, Payal D, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey N, Domchek, Susan M, Goldgar, David E, Nathanson, Katherine L, Kraft, Peter, Yao, Song, and Couch, Fergus J
Abstract: BackgroundThe risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women with breast cancer and 4993 unaffected AA women drawn from 10 epidemiologic studies.MethodsGermline DNA samples were sequenced for mutations in 23 cancer predisposition genes using a QIAseq multiplex amplicon panel. Prevalence of mutations and odds ratios (ORs) for associations with breast cancer risk were estimated with adjustment for study design, age, and family history of breast cancer.ResultsPathogenic mutations were identified in 10.3% of women with estrogen receptor (ER)-negative breast cancer, 5.2% of women with ER-positive breast cancer, and 2.3% of unaffected women. Mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (OR = 47.55, 95% confidence interval [CI] = 10.43 to >100; OR = 7.25, 95% CI = 4.07 to 14.12; OR = 8.54, 95% CI = 3.67 to 24.95, respectively). RAD51D mutations were associated with high risk of ER-negative disease (OR = 7.82, 95% CI = 1.61 to 57.42). Moderate risks were observed for CHEK2, ATM, ERCC3, and FANCC mutations with ER-positive cancer, and RECQL mutations with all breast cancer.ConclusionsThe study identifies genes that predispose to breast cancer in the AA population, demonstrates the validity of current breast cancer testing panels for use in AA women, and provides a basis for increased referral of AA patients for cancer genetic testing.
Published: 2020

14. Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

Author: Palmer, Julie R, Palmer, Julie R, Polley, Eric C, Hu, Chunling, John, Esther M, Haiman, Christopher, Hart, Steven N, Gaudet, Mia, Pal, Tuya, Anton-Culver, Hoda, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine B, Bandera, Elisa V, Bertrand, Kimberly A, Bethea, Traci N, Gao, Chi, Gnanaolivu, Rohan D, Huang, Hongyan, Lee, Kun Y, LeMarchand, Loic, Na, Jie, Sandler, Dale P, Shah, Payal D, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey N, Domchek, Susan M, Goldgar, David E, Nathanson, Katherine L, Kraft, Peter, Yao, Song, Couch, Fergus J, Palmer, Julie R, Palmer, Julie R, Polley, Eric C, Hu, Chunling, John, Esther M, Haiman, Christopher, Hart, Steven N, Gaudet, Mia, Pal, Tuya, Anton-Culver, Hoda, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine B, Bandera, Elisa V, Bertrand, Kimberly A, Bethea, Traci N, Gao, Chi, Gnanaolivu, Rohan D, Huang, Hongyan, Lee, Kun Y, LeMarchand, Loic, Na, Jie, Sandler, Dale P, Shah, Payal D, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey N, Domchek, Susan M, Goldgar, David E, Nathanson, Katherine L, Kraft, Peter, Yao, Song, and Couch, Fergus J
Abstract: BackgroundThe risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women with breast cancer and 4993 unaffected AA women drawn from 10 epidemiologic studies.MethodsGermline DNA samples were sequenced for mutations in 23 cancer predisposition genes using a QIAseq multiplex amplicon panel. Prevalence of mutations and odds ratios (ORs) for associations with breast cancer risk were estimated with adjustment for study design, age, and family history of breast cancer.ResultsPathogenic mutations were identified in 10.3% of women with estrogen receptor (ER)-negative breast cancer, 5.2% of women with ER-positive breast cancer, and 2.3% of unaffected women. Mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (OR = 47.55, 95% confidence interval [CI] = 10.43 to >100; OR = 7.25, 95% CI = 4.07 to 14.12; OR = 8.54, 95% CI = 3.67 to 24.95, respectively). RAD51D mutations were associated with high risk of ER-negative disease (OR = 7.82, 95% CI = 1.61 to 57.42). Moderate risks were observed for CHEK2, ATM, ERCC3, and FANCC mutations with ER-positive cancer, and RECQL mutations with all breast cancer.ConclusionsThe study identifies genes that predispose to breast cancer in the AA population, demonstrates the validity of current breast cancer testing panels for use in AA women, and provides a basis for increased referral of AA patients for cancer genetic testing.
Published: 2020

15. Determining Mycobacterium tuberculosis Drug Resistance and Risk Factors for Multidrug-Resistant Tuberculosis in Sputum Smear-Positive Tuberculosis Outpatients in Anhui Province, China, 2015–2016

Author: Yao,Song, Yan,Junwei, Li,Ling, Ma,Dongchun, Liu,Jie, Wang,Qing, Wang,Aimin, Bao,Fangjin, Zhang,Zekun, Bao,Xundi, Yao,Song, Yan,Junwei, Li,Ling, Ma,Dongchun, Liu,Jie, Wang,Qing, Wang,Aimin, Bao,Fangjin, Zhang,Zekun, and Bao,Xundi
Abstract: Song Yao,1,* Junwei Yan,2,* Ling Li,1 Dongchun Ma,1 Jie Liu,1 Qing Wang,1 Aimin Wang,1 Fangjin Bao,1 Zekun Zhang,1 Xundi Bao1 1Tuberculosis Prevention and Treatment Institute of Anhui Province (Anhui Chest Hospital), Hefei 230022, Anhui, People’s Republic of China; 2Affiliated Psychological Hospital of Anhui Medical University, Hefei Fourth People’s Hospital, Anhui Metal Health Center, Hefei, People’s Republic of China*These authors contributed equally to this workCorrespondence: Junwei Yan No. 316, Huangshan Road, Hefei 230022, Anhui, People’s Republic of ChinaTel/Fax +86-551-63658250Email 594347807@qq.comBackground: Multidrug-resistant tuberculosis (MDR-TB) is currently a major problem in China. The prevention and treatment work for MDR-TB patients started late in Anhui province. To determine the prevalence of MDR-TB in sputum smear-positive TB patients (SSPTBPs) and analyze the risk factors for MDR-TB in Anhui province, we conducted an investigation of drug resistance among SSPTB outpatients from September 2015 to August 2016.Methods: A stratified cluster-randomized sampling method was used to obtain a representative sample. It was estimated that 2290 new cases and 440 previously treated cases of SSPTBPs needed to be recruited from 40 survey sites. Isolates were tested for resistance to six first-line and second-line anti-TB drugs. Information from patient questionnaire survey was used to identify factors linked to MDR-TB.Results: Finally, a total of 3047 SSPTBPs were recruited from 40 survey sites; of these, 2530 specimens were successfully cultured and had drug susceptibility testing done. The proportions of rifampin resistant (RR)-TB were 11.42% (289/2530, 95% CI: 10.18– 12.66%), 7.64% (163/2133, 95% CI: 6.38– 8.62%) and 31.74% (126/397, 95% CI: 27.38– 36.60%) in all cases, new cases and previously treated cases, respectively, and the proportions of confirmed MDR-TB were 7
Published: 2020

16. Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

Author: Palmer, Julie, Palmer, Julie, Polley, Eric, Hu, Chunling, John, Esther, Haiman, Christopher, Hart, Steven, Gaudet, Mia, Pal, Tuya, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine, Bandera, Elisa, Bertrand, Kimberly, Bethea, Traci, Gao, Chi, Gnanaolivu, Rohan, Huang, Hongyan, Lee, Kun, LeMarchand, Loic, Na, Jie, Sandler, Dale, Shah, Payal, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey, Domchek, Susan, Goldgar, David, Nathanson, Katherine, Kraft, Peter, Yao, Song, Couch, Fergus, Anton-Culver, Hoda, Palmer, Julie, Palmer, Julie, Polley, Eric, Hu, Chunling, John, Esther, Haiman, Christopher, Hart, Steven, Gaudet, Mia, Pal, Tuya, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine, Bandera, Elisa, Bertrand, Kimberly, Bethea, Traci, Gao, Chi, Gnanaolivu, Rohan, Huang, Hongyan, Lee, Kun, LeMarchand, Loic, Na, Jie, Sandler, Dale, Shah, Payal, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey, Domchek, Susan, Goldgar, David, Nathanson, Katherine, Kraft, Peter, Yao, Song, Couch, Fergus, and Anton-Culver, Hoda
Abstract: BACKGROUND: The risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women with breast cancer and 4993 unaffected AA women drawn from 10 epidemiologic studies. METHODS: Germline DNA samples were sequenced for mutations in 23 cancer predisposition genes using a QIAseq multiplex amplicon panel. Prevalence of mutations and odds ratios (ORs) for associations with breast cancer risk were estimated with adjustment for study design, age, and family history of breast cancer. RESULTS: Pathogenic mutations were identified in 10.3% of women with estrogen receptor (ER)-negative breast cancer, 5.2% of women with ER-positive breast cancer, and 2.3% of unaffected women. Mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (OR = 47.55, 95% confidence interval [CI] = 10.43 to >100; OR = 7.25, 95% CI = 4.07 to 14.12; OR = 8.54, 95% CI = 3.67 to 24.95, respectively). RAD51D mutations were associated with high risk of ER-negative disease (OR = 7.82, 95% CI = 1.61 to 57.42). Moderate risks were observed for CHEK2, ATM, ERCC3, and FANCC mutations with ER-positive cancer, and RECQL mutations with all breast cancer. CONCLUSIONS: The study identifies genes that predispose to breast cancer in the AA population, demonstrates the validity of current breast cancer testing panels for use in AA women, and provides a basis for increased referral of AA patients for cancer genetic testing.
Published: 2020

17. Proceedings of the fourth international molecular pathological epidemiology (MPE) meeting

Author: Campbell, Peter T., Campbell, Peter T., Ambrosone, Christine B., Nishihara, Reiko, Aerts, Hugo J. W. L., Bondy, Melissa, Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Giannakis, Marios, Golden, Jeffrey A., Heng, Yujing J., Kip, N. Sertac, Koshiol, Jill, Liu, X. Shirley, Lopes-Ramos, Camila M., Mucci, Lorelei A., Nowak, Jonathan A., Phipps, Amanda I., Quackenbush, John, Schoen, Robert E., Sholl, Lynette M., Tamimi, Rulla M., Wang, Molin, Weijenberg, Matty P., Wu, Catherine J., Wu, Kana, Yao, Song, Yu, Kun-Hsing, Zhang, Xuehong, Rebbeck, Timothy R., Ogino, Shuji, Campbell, Peter T., Campbell, Peter T., Ambrosone, Christine B., Nishihara, Reiko, Aerts, Hugo J. W. L., Bondy, Melissa, Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Giannakis, Marios, Golden, Jeffrey A., Heng, Yujing J., Kip, N. Sertac, Koshiol, Jill, Liu, X. Shirley, Lopes-Ramos, Camila M., Mucci, Lorelei A., Nowak, Jonathan A., Phipps, Amanda I., Quackenbush, John, Schoen, Robert E., Sholl, Lynette M., Tamimi, Rulla M., Wang, Molin, Weijenberg, Matty P., Wu, Catherine J., Wu, Kana, Yao, Song, Yu, Kun-Hsing, Zhang, Xuehong, Rebbeck, Timothy R., and Ogino, Shuji
Abstract: An important premise of epidemiology is that individuals with the same disease share similar underlying etiologies and clinical outcomes. In the past few decades, our knowledge of disease pathogenesis has improved, and disease classification systems have evolved to the point where no complex disease processes are considered homogenous. As a result, pathology and epidemiology have been integrated into the single, unified field of molecular pathological epidemiology (MPE). Advancing integrative molecular and population-level health sciences and addressing the unique research challenges specific to the field of MPE necessitates assembling experts in diverse fields, including epidemiology, pathology, biostatistics, computational biology, bioinformatics, genomics, immunology, and nutritional and environmental sciences. Integrating these seemingly divergent fields can lead to a greater understanding of pathogenic processes. The International MPE Meeting Series fosters discussion that addresses the specific research questions and challenges in this emerging field. The purpose of the meeting series is to: discuss novel methods to integrate pathology and epidemiology; discuss studies that provide pathogenic insights into population impact; and educate next-generation scientists. Herein, we share the proceedings of the Fourth International MPE Meeting, held in Boston, MA, USA, on 30 May-1 June, 2018. Major themes of this meeting included integrated genetic and molecular pathologic epidemiology', immunology-MPE', and novel disease phenotyping'. The key priority areas for future research identified by meeting attendees included integration of tumor immunology and cancer disparities into epidemiologic studies, further collaboration between computational and population-level scientists to gain new insight on exposure-disease associations, and future pooling projects of studies with comparable data.
Published: 2019

18. Proceedings of the fourth international molecular pathological epidemiology (MPE) meeting

Author: Campbell, Peter T., Ambrosone, Christine B., Nishihara, Reiko, Aerts, Hugo J. W. L., Bondy, Melissa, Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Giannakis, Marios, Golden, Jeffrey A., Heng, Yujing J., Kip, N. Sertac, Koshiol, Jill, Liu, X. Shirley, Lopes-Ramos, Camila M., Mucci, Lorelei A., Nowak, Jonathan A., Phipps, Amanda I., Quackenbush, John, Schoen, Robert E., Sholl, Lynette M., Tamimi, Rulla M., Wang, Molin, Weijenberg, Matty P., Wu, Catherine J., Wu, Kana, Yao, Song, Yu, Kun-Hsing, Zhang, Xuehong, Rebbeck, Timothy R., Ogino, Shuji, Campbell, Peter T., Ambrosone, Christine B., Nishihara, Reiko, Aerts, Hugo J. W. L., Bondy, Melissa, Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Giannakis, Marios, Golden, Jeffrey A., Heng, Yujing J., Kip, N. Sertac, Koshiol, Jill, Liu, X. Shirley, Lopes-Ramos, Camila M., Mucci, Lorelei A., Nowak, Jonathan A., Phipps, Amanda I., Quackenbush, John, Schoen, Robert E., Sholl, Lynette M., Tamimi, Rulla M., Wang, Molin, Weijenberg, Matty P., Wu, Catherine J., Wu, Kana, Yao, Song, Yu, Kun-Hsing, Zhang, Xuehong, Rebbeck, Timothy R., and Ogino, Shuji
Abstract: An important premise of epidemiology is that individuals with the same disease share similar underlying etiologies and clinical outcomes. In the past few decades, our knowledge of disease pathogenesis has improved, and disease classification systems have evolved to the point where no complex disease processes are considered homogenous. As a result, pathology and epidemiology have been integrated into the single, unified field of molecular pathological epidemiology (MPE). Advancing integrative molecular and population-level health sciences and addressing the unique research challenges specific to the field of MPE necessitates assembling experts in diverse fields, including epidemiology, pathology, biostatistics, computational biology, bioinformatics, genomics, immunology, and nutritional and environmental sciences. Integrating these seemingly divergent fields can lead to a greater understanding of pathogenic processes. The International MPE Meeting Series fosters discussion that addresses the specific research questions and challenges in this emerging field. The purpose of the meeting series is to: discuss novel methods to integrate pathology and epidemiology; discuss studies that provide pathogenic insights into population impact; and educate next-generation scientists. Herein, we share the proceedings of the Fourth International MPE Meeting, held in Boston, MA, USA, on 30 May-1 June, 2018. Major themes of this meeting included integrated genetic and molecular pathologic epidemiology', immunology-MPE', and novel disease phenotyping'. The key priority areas for future research identified by meeting attendees included integration of tumor immunology and cancer disparities into epidemiologic studies, further collaboration between computational and population-level scientists to gain new insight on exposure-disease associations, and future pooling projects of studies with comparable data.
Published: 2019

19. Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci.

Author: Sucheston-Campbell, Lara E, Sucheston-Campbell, Lara E, Clay-Gilmour, Alyssa I, Barlow, William E, Budd, G Thomas, Stram, Daniel O, Haiman, Christopher A, Sheng, Xin, Yan, Li, Zirpoli, Gary, Yao, Song, Jiang, Chen, Owzar, Kouros, Hershman, Dawn, Albain, Kathy S, Hayes, Daniel F, Moore, Halle C, Hobday, Timothy J, Stewart, James A, Rizvi, Abbas, Isaacs, Claudine, Salim, Muhammad, Gralow, Jule R, Hortobagyi, Gabriel N, Livingston, Robert B, Kroetz, Deanna L, Ambrosone, Christine B, Sucheston-Campbell, Lara E, Sucheston-Campbell, Lara E, Clay-Gilmour, Alyssa I, Barlow, William E, Budd, G Thomas, Stram, Daniel O, Haiman, Christopher A, Sheng, Xin, Yan, Li, Zirpoli, Gary, Yao, Song, Jiang, Chen, Owzar, Kouros, Hershman, Dawn, Albain, Kathy S, Hayes, Daniel F, Moore, Halle C, Hobday, Timothy J, Stewart, James A, Rizvi, Abbas, Isaacs, Claudine, Salim, Muhammad, Gralow, Jule R, Hortobagyi, Gabriel N, Livingston, Robert B, Kroetz, Deanna L, and Ambrosone, Christine B
Abstract: OBJECTIVE:Taxane containing chemotherapy extends survival for breast cancer patients. However, taxane-induced peripheral neuropathy (TIPN) cannot be predicted, prevented or effectively treated. Using genome-wide analyses, we sought to identify common risk variants for TIPN. PATIENTS AND METHODS:Women with high-risk breast cancer enrolled in SWOG 0221 were genotyped using the Illumina 1M chip. Genome-wide analyses were performed in relation to ≥grade 3 Common Terminology Criteria for Adverse Events (CTCAE) neuropathy in European and African Americans. Data were meta-analyzed with GW associations of CTCAE ≥grade 3 versus
Published: 2018

20. Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci.

Author: Sucheston-Campbell, Lara E, Sucheston-Campbell, Lara E, Clay-Gilmour, Alyssa I, Barlow, William E, Budd, G Thomas, Stram, Daniel O, Haiman, Christopher A, Sheng, Xin, Yan, Li, Zirpoli, Gary, Yao, Song, Jiang, Chen, Owzar, Kouros, Hershman, Dawn, Albain, Kathy S, Hayes, Daniel F, Moore, Halle C, Hobday, Timothy J, Stewart, James A, Rizvi, Abbas, Isaacs, Claudine, Salim, Muhammad, Gralow, Jule R, Hortobagyi, Gabriel N, Livingston, Robert B, Kroetz, Deanna L, Ambrosone, Christine B, Sucheston-Campbell, Lara E, Sucheston-Campbell, Lara E, Clay-Gilmour, Alyssa I, Barlow, William E, Budd, G Thomas, Stram, Daniel O, Haiman, Christopher A, Sheng, Xin, Yan, Li, Zirpoli, Gary, Yao, Song, Jiang, Chen, Owzar, Kouros, Hershman, Dawn, Albain, Kathy S, Hayes, Daniel F, Moore, Halle C, Hobday, Timothy J, Stewart, James A, Rizvi, Abbas, Isaacs, Claudine, Salim, Muhammad, Gralow, Jule R, Hortobagyi, Gabriel N, Livingston, Robert B, Kroetz, Deanna L, and Ambrosone, Christine B
Abstract: ObjectiveTaxane containing chemotherapy extends survival for breast cancer patients. However, taxane-induced peripheral neuropathy (TIPN) cannot be predicted, prevented or effectively treated. Using genome-wide analyses, we sought to identify common risk variants for TIPN.Patients and methodsWomen with high-risk breast cancer enrolled in SWOG 0221 were genotyped using the Illumina 1M chip. Genome-wide analyses were performed in relation to ≥grade 3 Common Terminology Criteria for Adverse Events (CTCAE) neuropathy in European and African Americans. Data were meta-analyzed with GW associations of CTCAE ≥grade 3 versus ResultsThe percentage of ≥grade 3 TIPN in 1269 European Americans and 139 African Americans in S0221, was 11.6 and 22.3%, respectively. CALGB 40101 ≥grade 3 TOPN was 7.2%. The most significant association with ≥grade 3 TIPN was the G allele of rs1858826 in GNGT1 (Pmeta=1.1×10), which showed a decrease in risk of ≥grade 3 TIPN (odds ratio=0.29, 95% confidence interval: 0.18-0.46).ConclusionThe genetic variants associated with ≥grade 3 TIPN are hypothesized to have biochemical functions and reside in and near genes involved in diabetes and diabetic neuropathy. This finding is consistent with results from CALGB 40101 pathway analyses. Larger homogeneous trials with similar dosing and criteria for defining neuropathy are needed to properly assess the relationship of genomics with the neuropathy spectrum.
Published: 2018

21. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Seiler, stephan, Yao, song, Wang, Wenbo, Seiler, stephan, Yao, song, and Wang, Wenbo
Published: 2017

22. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Wang, Wenbo, Yao, Song, Seiler, Stephan, Wang, Wenbo, Yao, Song, and Seiler, Stephan
Abstract: We leverage a temporary block of the Chinese microblogging platform Sina Weibo due to political events, to estimate the causal effect of online word-of-mouth content on product demand in the context of TV show viewership. Based on this source of exogenous variation, we estimate an elasticity of TV show ratings (market share in terms of viewership) with respect to the number of relevant comments (comments were disabled during the block) of 0.016. In terms of the behavioral mechanism, we find more post-show microblogging activity increases demand, whereas comments posted prior to the show airing do not affect viewership. These patterns are inconsistent with informative or persuasive advertising effects and suggest complementarity between TV consumption and anticipated post-show microblogging activity.
Published: 2017

23. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Seiler, stephan, Yao, song, Wang, Wenbo, Seiler, stephan, Yao, song, and Wang, Wenbo
Published: 2017

24. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Wang, Wenbo, Yao, Song, Seiler, Stephan, Wang, Wenbo, Yao, Song, and Seiler, Stephan
Abstract: We leverage a temporary block of the Chinese microblogging platform Sina Weibo due to political events, to estimate the causal effect of online word-of-mouth content on product demand in the context of TV show viewership. Based on this source of exogenous variation, we estimate an elasticity of TV show ratings (market share in terms of viewership) with respect to the number of relevant comments (comments were disabled during the block) of 0.016. In terms of the behavioral mechanism, we find more post-show microblogging activity increases demand, whereas comments posted prior to the show airing do not affect viewership. These patterns are inconsistent with informative or persuasive advertising effects and suggest complementarity between TV consumption and anticipated post-show microblogging activity.
Published: 2017

25. Genetic Ancestry Is not Associated with Breast Cancer Recurrence or Survival in U.S. Latina Women Enrolled in the Kaiser Permanente Pathways Study.

Author: Engmann, Natalie J, Engmann, Natalie J, Ergas, Isaac J, Yao, Song, Kwan, Marilyn L, Roh, Janise M, Ambrosone, Christine B, Kushi, Lawrence H, Fejerman, Laura, Engmann, Natalie J, Engmann, Natalie J, Ergas, Isaac J, Yao, Song, Kwan, Marilyn L, Roh, Janise M, Ambrosone, Christine B, Kushi, Lawrence H, and Fejerman, Laura
Abstract: Background: The U.S. Hispanic/Latino population is heterogeneous both socioculturally and by the proportion of European, Indigenous American, and African ancestry of the regions from which individuals originate. A previous study reported that genetic ancestry was associated with breast cancer survival among Latinas, independent of sociodemographic and tumor characteristics, suggesting that a genetic factor associated with ancestry may affect breast cancer survival.Methods: We evaluated the association of genetic ancestry with breast cancer outcomes among 506 Latina women with invasive breast cancer in the Pathways Study, a cohort study within Kaiser Permanente, an integrated health care delivery system. Proportional hazards models were used to assess the effect of ancestry on breast cancer recurrence (53 events), breast cancer-specific mortality (31 events) and all-cause mortality (54 events), with a mean follow-up time of 6 years.Results: Indigenous American ancestry was not associated with breast cancer recurrence [HR = 1.00 per 10% increase; 95% confidence interval (CI), 0.86-1.16], breast cancer mortality (HR = 0.95; 95% CI, 0.77-1.17), or all-cause mortality (HR = 0.93; 95% CI, 0.80-1.08). Adjustment for sociodemographic variables, tumor characteristics, and treatment did not alter the associations.Conclusions: Our results suggest that previously reported differences in breast cancer survival by genetic ancestry may be overcome by improving health care access and/or quality.Impact: Improving health care access and quality may reduce breast cancer disparities among U.S. Latinas. Cancer Epidemiol Biomarkers Prev; 26(9); 1466-9. ©2017 AACR.
Published: 2017

26. Software-Hardware Codesign for Efficient Neural Network Acceleration

Author: Guo, Kaiyuan, Han, Song, Yao, Song, Wang, Yu, Xie, Yuan, Yang, Huazhong, Guo, Kaiyuan, Han, Song, Yao, Song, Wang, Yu, Xie, Yuan, and Yang, Huazhong
Abstract: Designers making deep learning computing more efficient cannot rely solely on hardware. Incorporating software-optimization techniques such as model compression leads to significant power savings and performance improvement. This article provides an overview of DeePhi's technology flow, including compression, compilation, and hardware acceleration. Two accelerators, named Aristotle and Descartes, are designed to achieve extremely high energy efficiency for both client and datacenter applications with convolutional neural network and recurrent neural network, respectively. © 1981-2012 IEEE.
Published: 2017

27. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Seiler, stephan, Yao, song, Wang, Wenbo, Seiler, stephan, Yao, song, and Wang, Wenbo
Published: 2017

28. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Wang, Wenbo, Yao, Song, Seiler, Stephan, Wang, Wenbo, Yao, Song, and Seiler, Stephan
Abstract: We leverage a temporary block of the Chinese microblogging platform Sina Weibo due to political events, to estimate the causal effect of online word-of-mouth content on product demand in the context of TV show viewership. Based on this source of exogenous variation, we estimate an elasticity of TV show ratings (market share in terms of viewership) with respect to the number of relevant comments (comments were disabled during the block) of 0.016. In terms of the behavioral mechanism, we find more post-show microblogging activity increases demand, whereas comments posted prior to the show airing do not affect viewership. These patterns are inconsistent with informative or persuasive advertising effects and suggest complementarity between TV consumption and anticipated post-show microblogging activity.
Published: 2017

29. Sponsored Search Auctions : Research Opportunities in Marketing

Author: Yao, Song, Mela, Carl F., Yao, Song, Yao, Song, Mela, Carl F., and Yao, Song
Abstract: We systematically overview the literature in keyword search and propose several promising research directions. The paper is organized by each agent in the search process; searchers, advertisers and the search engine and reviews the key research issues for each. For each group, we outline the decision process involved in keyword search. For searchers, this involves what to search, where to search, which results to click, and when to exit search. For advertisers, this involves where to bid and which word or words to bid on, and how searchers and auction mechanisms moderate these behaviors. The search engine faces choices on mechanism design, website design and how much information to share with its advertisers and searchers. These choices have implications for customer lifetime value and the nature of competition between advertisers. Overall, we list a number of potential areas of future research arising from the decision processes of these various agents.
Published: 2009

30. Sponsored Search Auctions : Research Opportunities in Marketing

Author: Yao, Song, Mela, Carl F., Yao, Song, Yao, Song, Mela, Carl F., and Yao, Song
Abstract: We systematically overview the literature in keyword search and propose several promising research directions. The paper is organized by each agent in the search process; searchers, advertisers and the search engine and reviews the key research issues for each. For each group, we outline the decision process involved in keyword search. For searchers, this involves what to search, where to search, which results to click, and when to exit search. For advertisers, this involves where to bid and which word or words to bid on, and how searchers and auction mechanisms moderate these behaviors. The search engine faces choices on mechanism design, website design and how much information to share with its advertisers and searchers. These choices have implications for customer lifetime value and the nature of competition between advertisers. Overall, we list a number of potential areas of future research arising from the decision processes of these various agents.
Published: 2009

31. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
Published: 2016
Full Text: View/download PDF

32. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction., Funding Agencies|European Community Seventh Framework Programme [223175, HEALTH-F2-2009-223175]; Cancer Research UK [C1287/A10118, C1287/A10710, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C12292/A11174]; National Institutes of Health [CA116201, CA128978, CA176785, CA192393]; National Institutes of Health, Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]; National Institutes of Health, GAME-ON initiative; Canadian Institutes of Health Research (CIHR); Breast Cancer Res. Foundation; Ovarian Cancer Research Fund; Department of Defence [W81XWH-10-1-0341]; Florida Breast Cancer Foundation
Published: 2016
Full Text: View/download PDF

33. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
Published: 2016
Full Text: View/download PDF

34. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction., Funding Agencies|European Community Seventh Framework Programme [223175, HEALTH-F2-2009-223175]; Cancer Research UK [C1287/A10118, C1287/A10710, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C12292/A11174]; National Institutes of Health [CA116201, CA128978, CA176785, CA192393]; National Institutes of Health, Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]; National Institutes of Health, GAME-ON initiative; Canadian Institutes of Health Research (CIHR); Breast Cancer Res. Foundation; Ovarian Cancer Research Fund; Department of Defence [W81XWH-10-1-0341]; Florida Breast Cancer Foundation
Published: 2016
Full Text: View/download PDF

35. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
Published: 2016
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36. An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

Author: Wyszynski, Asaf, Wyszynski, Asaf, Hong, Chi-Chen, Lam, Kristin, Michailidou, Kyriaki, Lytle, Christian, Yao, Song, Zhang, Yali, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Hopper, John L, Southey, Melissa C, Schmidt, Marjanka K, Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, BÃ¸rge G, Gonzalez-Neira, Anna, Benitez, Javier, Neuhausen, Susan L, Brenner, Hermann, Dieffenbach, Aida Karina, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, DÃ¶rk, Thilo, Bogdanova, Natalia V, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Wu, Anna H, Van Den Berg, David, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Henderson, Brian E, Dumont, Martine, Teo, Soo Hwang, Wong, Tien Y, Kristensen, Vessela, Zheng, Wei, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Figueroa, Jonine, Klevebring, Daniel, Czene, Kamila, Hooning, Maartje J, van den Ouweland, Ans M. W., Darabi, Hatef, Shu, Xiao-Ou, Gao, Yu-Tang, Cox, Angela, Blot, William, Signorello, Lisa B, Shah, Mitul, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Hamann, Ute, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, McKay, James, Toland, Amanda E, Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Swerdlow, Anthony, Orr, Nick, Wyszynski, Asaf, Wyszynski, Asaf, Hong, Chi-Chen, Lam, Kristin, Michailidou, Kyriaki, Lytle, Christian, Yao, Song, Zhang, Yali, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Hopper, John L, Southey, Melissa C, Schmidt, Marjanka K, Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, BÃ¸rge G, Gonzalez-Neira, Anna, Benitez, Javier, Neuhausen, Susan L, Brenner, Hermann, Dieffenbach, Aida Karina, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, DÃ¶rk, Thilo, Bogdanova, Natalia V, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Wu, Anna H, Van Den Berg, David, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Henderson, Brian E, Dumont, Martine, Teo, Soo Hwang, Wong, Tien Y, Kristensen, Vessela, Zheng, Wei, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Figueroa, Jonine, Klevebring, Daniel, Czene, Kamila, Hooning, Maartje J, van den Ouweland, Ans M. W., Darabi, Hatef, Shu, Xiao-Ou, Gao, Yu-Tang, Cox, Angela, Blot, William, Signorello, Lisa B, Shah, Mitul, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Hamann, Ute, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, McKay, James, Toland, Amanda E, Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Swerdlow, Anthony, and Orr, Nick
Published: 2016

37. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

38. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Seiler, Stephan, Yao, Song, Wang, Wenbo, Seiler, Stephan, Yao, Song, and Wang, Wenbo
Published: 2016

39. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Research Programs Unit, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., University of Helsinki, Medicum, University of Helsinki, Clinicum, University of Helsinki, Research Programs Unit, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P
Published: 2016

40. Does Online Word-of-Mouth Increase Demand? (and How?) Evidence from a Natural Experiment

Author: Seiler, Stephan, Yao, Song, Wang, Wenbo, Seiler, Stephan, Yao, Song, and Wang, Wenbo
Published: 2016

41. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

42. Genetic predisposition to ductal carcinoma in situ of the breast

Author: Petridis, Christos, Brook, Mark N., Shah, Vandna, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Levi, Dina, Papouli, Efterpi, Orr, Nick, Cox, Angela, Cross, Simon S., dos-Santos-Silva, Isabel, Peto, Julian, Swerdlow, Anthony, Schoemaker, Minouk J., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Benitez, Javier, Gonzalez-Neira, Anna, Tessier, Daniel C., Vincent, Daniel, Li, Jingmei, Figueroa, Jonine, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Soucy, Penny, Simard, Jacques, Milne, Roger L., Giles, Graham G., Margolin, Sara, Lindblom, Annika, Bruening, Thomas, Brauch, Hiltrud, Southey, Melissa C., Hopper, John L., Doerk, Thilo, Bogdanova, Natalia V., Kabisch, Maria, Hamann, Ute, Schmutzler, Rita K., Meindl, Alfons, Brenner, Hermann, Arndt, Volker, Winqvist, Robert, Pylkas, Katri, Fasching, Peter A., Beckmann, Matthias W., Lubinski, Jan, Jakubowska, Anna, Mulligan, Anna Marie, Andrulis, Irene L., Tollenaar, Rob A. E. M., Devilee, Peter, Le Marchand, Loic, Haiman, Christopher A., Mannermaa, Arto, Kosma, Veli-Matti, Radice, Paolo, Peterlongo, Paolo, Marme, Frederik, Burwinkel, Barbara, van Deurzen, Carolien H. M., Hollestelle, Antoinette, Miller, Nicola, Kerin, Michael J., Lambrechts, Diether, Floris, Giuseppe, Wesseling, Jelle, Flyger, Henrik, Bojesen, Stig E., Yao, Song, Ambrosone, Christine B., Chenevix-Trench, Georgia, Truong, Therese, Guenel, Pascal, Rudolph, Anja, Chang-Claude, Jenny, Nevanlinna, Heli, Blomqvist, Carl, Czene, Kamila, Brand, Judith S., Olson, Janet E., Couch, Fergus J., Dunning, Alison M., Hall, Per, Easton, Douglas F., Pharoah, Paul D. P., Pinder, Sarah E., Schmidt, Marjanka K., Tomlinson, Ian, Roylance, Rebecca, Garcia-Closas, Montserrat, Sawyer, Elinor J., Petridis, Christos, Brook, Mark N., Shah, Vandna, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Levi, Dina, Papouli, Efterpi, Orr, Nick, Cox, Angela, Cross, Simon S., dos-Santos-Silva, Isabel, Peto, Julian, Swerdlow, Anthony, Schoemaker, Minouk J., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Benitez, Javier, Gonzalez-Neira, Anna, Tessier, Daniel C., Vincent, Daniel, Li, Jingmei, Figueroa, Jonine, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Soucy, Penny, Simard, Jacques, Milne, Roger L., Giles, Graham G., Margolin, Sara, Lindblom, Annika, Bruening, Thomas, Brauch, Hiltrud, Southey, Melissa C., Hopper, John L., Doerk, Thilo, Bogdanova, Natalia V., Kabisch, Maria, Hamann, Ute, Schmutzler, Rita K., Meindl, Alfons, Brenner, Hermann, Arndt, Volker, Winqvist, Robert, Pylkas, Katri, Fasching, Peter A., Beckmann, Matthias W., Lubinski, Jan, Jakubowska, Anna, Mulligan, Anna Marie, Andrulis, Irene L., Tollenaar, Rob A. E. M., Devilee, Peter, Le Marchand, Loic, Haiman, Christopher A., Mannermaa, Arto, Kosma, Veli-Matti, Radice, Paolo, Peterlongo, Paolo, Marme, Frederik, Burwinkel, Barbara, van Deurzen, Carolien H. M., Hollestelle, Antoinette, Miller, Nicola, Kerin, Michael J., Lambrechts, Diether, Floris, Giuseppe, Wesseling, Jelle, Flyger, Henrik, Bojesen, Stig E., Yao, Song, Ambrosone, Christine B., Chenevix-Trench, Georgia, Truong, Therese, Guenel, Pascal, Rudolph, Anja, Chang-Claude, Jenny, Nevanlinna, Heli, Blomqvist, Carl, Czene, Kamila, Brand, Judith S., Olson, Janet E., Couch, Fergus J., Dunning, Alison M., Hall, Per, Easton, Douglas F., Pharoah, Paul D. P., Pinder, Sarah E., Schmidt, Marjanka K., Tomlinson, Ian, Roylance, Rebecca, Garcia-Closas, Montserrat, and Sawyer, Elinor J.
Abstract: Background: Ductal carcinoma in situ (DCIS) is a non-invasive form of breast cancer. It is often associated with invasive ductal carcinoma (IDC), and is considered to be a non-obligate precursor of IDC. It is not clear to what extent these two forms of cancer share low-risk susceptibility loci, or whether there are differences in the strength of association for shared loci. Methods: To identify genetic polymorphisms that predispose to DCIS, we pooled data from 38 studies comprising 5,067 cases of DCIS, 24,584 cases of IDC and 37,467 controls, all genotyped using the iCOGS chip. Results: Most (67 %) of the 76 known breast cancer predisposition loci showed an association with DCIS in the same direction as previously reported for invasive breast cancer. Case-only analysis showed no evidence for differences between associations for IDC and DCIS after considering multiple testing. Analysis by estrogen receptor (ER) status confirmed that loci associated with ER positive IDC were also associated with ER positive DCIS. Analysis of DCIS by grade suggested that two independent SNPs at 11q13.3 near CCND1 were specific to low/intermediate grade DCIS (rs75915166, rs554219). These associations with grade remained after adjusting for ER status and were also found in IDC. We found no novel DCIS-specific loci at a genome wide significance level of P < 5.0x10(-8). Conclusion: In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist.
Published: 2016

43. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
Published: 2016

44. An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

Author: Wyszynski, Asaf, Hong, Chi-Chen, Lam, Kristin, Michailidou, Kyriaki, Lytle, Christian, Yao, Song, Zhang, Yali, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A., Beckmann, Matthias W., Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Nordestgaard, Borge G., Gonzalez-Neira, Anna, Benitez, Javier, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Doerk, Thilo, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Wu, Anna H., Van den Berg, David, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Olson, Janet E., Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Henderson, Brian E., Dumont, Martine, Teo, Soo Hwang, Wong, Tien Y., Kristensen, Vessela, Zheng, Wei, Long, Jirong, Winqvist, Robert, Pylkas, Katri, Andrulis, Irene L., Knight, Julia A., Devilee, Peter, Seynaeve, Caroline, Garcia-Closas, Montserrat, Figueroa, Jonine, Klevebring, Daniel, Czene, Kamila, Hooning, Maartje J., van den Ouweland, Ans M. W., Darabi, Hatef, Shu, Xiao-Ou, Gao, Yu-Tang, Cox, Angela, Blot, William, Signorello, Lisa B., Shah, Mitul, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Hamann, Ute, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, McKay, James, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Swerdlow, Anthony, Orr, Nick, Simard, Jacques, Pharoah, Paul D. P., Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Bandera, Elisa, Amos, Chris, Ambrosone, Christine, Easton, Douglas F., Cole, Michael D., Wyszynski, Asaf, Hong, Chi-Chen, Lam, Kristin, Michailidou, Kyriaki, Lytle, Christian, Yao, Song, Zhang, Yali, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A., Beckmann, Matthias W., Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Nordestgaard, Borge G., Gonzalez-Neira, Anna, Benitez, Javier, Neuhausen, Susan L., Brenner, Hermann, Dieffenbach, Aida Karina, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, Doerk, Thilo, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Wu, Anna H., Van den Berg, David, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J., Olson, Janet E., Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Henderson, Brian E., Dumont, Martine, Teo, Soo Hwang, Wong, Tien Y., Kristensen, Vessela, Zheng, Wei, Long, Jirong, Winqvist, Robert, Pylkas, Katri, Andrulis, Irene L., Knight, Julia A., Devilee, Peter, Seynaeve, Caroline, Garcia-Closas, Montserrat, Figueroa, Jonine, Klevebring, Daniel, Czene, Kamila, Hooning, Maartje J., van den Ouweland, Ans M. W., Darabi, Hatef, Shu, Xiao-Ou, Gao, Yu-Tang, Cox, Angela, Blot, William, Signorello, Lisa B., Shah, Mitul, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Hamann, Ute, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, McKay, James, Toland, Amanda E., Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Swerdlow, Anthony, Orr, Nick, Simard, Jacques, Pharoah, Paul D. P., Dunning, Alison M., Chenevix-Trench, Georgia, Hall, Per, Bandera, Elisa, Amos, Chris, Ambrosone, Christine, Easton, Douglas F., and Cole, Michael D.
Abstract: Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify functional susceptibility loci for breast cancer, we interrogated the 2q35 gene desert for chromatin architecture and functional variation correlated with gene expression. We report a novel intergenic breast cancer risk locus containing an enhancer copy number variation (enCNV; deletion) located approximately 400Kb upstream to IGFBP5, which overlaps an intergenic ER alpha-bound enhancer that loops to the IGFBP5 promoter. The enCNV is correlated with modified ER alpha binding and monoallelic-repression of IGFBP5 following oestrogen treatment. We investigated the association of enCNV genotype with breast cancer in 1,182 cases and 1,362 controls, and replicate our findings in an independent set of 62,533 cases and 60,966 controls from 41 case control studies and 11 GWAS. We report a dose-dependent inverse association of 2q35 enCNV genotype (percopy OR = 0.68 95% CI 0.55-0.83, P = 0.0002; replication OR = 0.77 95% CI 0.73-0.82, P = 2.1 x 10 (-19)) and identify 13 additional linked variants (r(2) > 0.8) in the 20Kb linkage block containing the enCNV (P = 3.2 x 10 (-15) - 5.6 x 10 (-17)). These associations were independent of previously reported 2q35 variants, rs13387042/rs4442975 and rs16857609, and were stronger for ER-positive than ER-negative disease. Together, these results suggest that 2q35 breast cancer risk loci may be mediating their effect through IGFBP5.
Published: 2016

45. An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

Author: Wyszynski, Asaf, Wyszynski, Asaf, Hong, Chi-Chen, Lam, Kristin, Michailidou, Kyriaki, Lytle, Christian, Yao, Song, Zhang, Yali, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Hopper, John L, Southey, Melissa C, Schmidt, Marjanka K, Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, BÃ¸rge G, Gonzalez-Neira, Anna, Benitez, Javier, Neuhausen, Susan L, Brenner, Hermann, Dieffenbach, Aida Karina, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, DÃ¶rk, Thilo, Bogdanova, Natalia V, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Wu, Anna H, Van Den Berg, David, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Henderson, Brian E, Dumont, Martine, Teo, Soo Hwang, Wong, Tien Y, Kristensen, Vessela, Zheng, Wei, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Figueroa, Jonine, Klevebring, Daniel, Czene, Kamila, Hooning, Maartje J, van den Ouweland, Ans M. W., Darabi, Hatef, Shu, Xiao-Ou, Gao, Yu-Tang, Cox, Angela, Blot, William, Signorello, Lisa B, Shah, Mitul, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Hamann, Ute, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, McKay, James, Toland, Amanda E, Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Swerdlow, Anthony, Orr, Nick, Wyszynski, Asaf, Wyszynski, Asaf, Hong, Chi-Chen, Lam, Kristin, Michailidou, Kyriaki, Lytle, Christian, Yao, Song, Zhang, Yali, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Hopper, John L, Southey, Melissa C, Schmidt, Marjanka K, Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, BÃ¸rge G, Gonzalez-Neira, Anna, Benitez, Javier, Neuhausen, Susan L, Brenner, Hermann, Dieffenbach, Aida Karina, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Ito, Hidemi, DÃ¶rk, Thilo, Bogdanova, Natalia V, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Wu, Anna H, Van Den Berg, David, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Couch, Fergus J, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Henderson, Brian E, Dumont, Martine, Teo, Soo Hwang, Wong, Tien Y, Kristensen, Vessela, Zheng, Wei, Long, Jirong, Winqvist, Robert, Pylkäs, Katri, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Figueroa, Jonine, Klevebring, Daniel, Czene, Kamila, Hooning, Maartje J, van den Ouweland, Ans M. W., Darabi, Hatef, Shu, Xiao-Ou, Gao, Yu-Tang, Cox, Angela, Blot, William, Signorello, Lisa B, Shah, Mitul, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Miao, Hui, Hamann, Ute, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, McKay, James, Toland, Amanda E, Yannoukakos, Drakoulis, Shen, Chen-Yang, Wu, Pei-Ei, Swerdlow, Anthony, and Orr, Nick
Published: 2016

46. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

47. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora, M. Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
Published: 2016
Full Text: View/download PDF

48. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A., Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomaeki, Kristiina, Ambrosone, Christine, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M., Ehrencrona, Hans, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Foersti, Asta, Fostira, Florentia, Foulkes, William D., Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A., Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Birk Jensen, Uffe, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y., Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L., Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nordestgaard, Borge G., Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Osorio, Ana, Park, Sue K., Peeters, Petra H., Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkaes, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sanchez, Maria-Jose, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K., Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary B., Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E., Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Therese, Tsimiklis, Helen, Teule, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Pilar Zamora, M., Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Monteiro, Alvaro A. N., Garcia-Closas, Montserrat, Easton, Douglas F., and Antoniou, Antonis C.
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction., Funding Agencies|European Community Seventh Framework Programme [223175, HEALTH-F2-2009-223175]; Cancer Research UK [C1287/A10118, C1287/A10710, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C12292/A11174]; National Institutes of Health [CA116201, CA128978, CA176785, CA192393]; National Institutes of Health, Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]; National Institutes of Health, GAME-ON initiative; Canadian Institutes of Health Research (CIHR); Breast Cancer Res. Foundation; Ovarian Cancer Research Fund; Department of Defence [W81XWH-10-1-0341]; Florida Breast Cancer Foundation
Published: 2016
Full Text: View/download PDF

49. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Epi Kanker Team 1, JC onderzoeksprogramma Kanker, Cancer, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C, Epi Kanker Team 1, JC onderzoeksprogramma Kanker, Cancer, Couch, Fergus J, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Mendoza-Fandino, Gustavo A, Nord, Silje, Lilyquist, Janna, Olswold, Curtis, Hallberg, Emily, Agata, Simona, Ahsan, Habibul, Aittomäki, Kristiina, Ambrosone, Christine, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Canzian, Federico, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen B M, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan C, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M, Eccles, Diana M, Ehrencrona, Hans, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, and Antoniou, Antonis C
Published: 2016

50. Genetic predisposition to ductal carcinoma in situ of the breast

Author: Petridis, Christos, Brook, Mark N., Shah, Vandna, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Levi, Dina, Papouli, Efterpi, Orr, Nick, Cox, Angela, Cross, Simon S., dos-Santos-Silva, Isabel, Peto, Julian, Swerdlow, Anthony, Schoemaker, Minouk J., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Benitez, Javier, Gonzalez-Neira, Anna, Tessier, Daniel C., Vincent, Daniel, Li, Jingmei, Figueroa, Jonine, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Soucy, Penny, Simard, Jacques, Milne, Roger L., Giles, Graham G., Margolin, Sara, Lindblom, Annika, Bruening, Thomas, Brauch, Hiltrud, Southey, Melissa C., Hopper, John L., Doerk, Thilo, Bogdanova, Natalia V., Kabisch, Maria, Hamann, Ute, Schmutzler, Rita K., Meindl, Alfons, Brenner, Hermann, Arndt, Volker, Winqvist, Robert, Pylkas, Katri, Fasching, Peter A., Beckmann, Matthias W., Lubinski, Jan, Jakubowska, Anna, Mulligan, Anna Marie, Andrulis, Irene L., Tollenaar, Rob A. E. M., Devilee, Peter, Le Marchand, Loic, Haiman, Christopher A., Mannermaa, Arto, Kosma, Veli-Matti, Radice, Paolo, Peterlongo, Paolo, Marme, Frederik, Burwinkel, Barbara, van Deurzen, Carolien H. M., Hollestelle, Antoinette, Miller, Nicola, Kerin, Michael J., Lambrechts, Diether, Floris, Giuseppe, Wesseling, Jelle, Flyger, Henrik, Bojesen, Stig E., Yao, Song, Ambrosone, Christine B., Chenevix-Trench, Georgia, Truong, Therese, Guenel, Pascal, Rudolph, Anja, Chang-Claude, Jenny, Nevanlinna, Heli, Blomqvist, Carl, Czene, Kamila, Brand, Judith S., Olson, Janet E., Couch, Fergus J., Dunning, Alison M., Hall, Per, Easton, Douglas F., Pharoah, Paul D. P., Pinder, Sarah E., Schmidt, Marjanka K., Tomlinson, Ian, Roylance, Rebecca, Garcia-Closas, Montserrat, Sawyer, Elinor J., Petridis, Christos, Brook, Mark N., Shah, Vandna, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Levi, Dina, Papouli, Efterpi, Orr, Nick, Cox, Angela, Cross, Simon S., dos-Santos-Silva, Isabel, Peto, Julian, Swerdlow, Anthony, Schoemaker, Minouk J., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Benitez, Javier, Gonzalez-Neira, Anna, Tessier, Daniel C., Vincent, Daniel, Li, Jingmei, Figueroa, Jonine, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Soucy, Penny, Simard, Jacques, Milne, Roger L., Giles, Graham G., Margolin, Sara, Lindblom, Annika, Bruening, Thomas, Brauch, Hiltrud, Southey, Melissa C., Hopper, John L., Doerk, Thilo, Bogdanova, Natalia V., Kabisch, Maria, Hamann, Ute, Schmutzler, Rita K., Meindl, Alfons, Brenner, Hermann, Arndt, Volker, Winqvist, Robert, Pylkas, Katri, Fasching, Peter A., Beckmann, Matthias W., Lubinski, Jan, Jakubowska, Anna, Mulligan, Anna Marie, Andrulis, Irene L., Tollenaar, Rob A. E. M., Devilee, Peter, Le Marchand, Loic, Haiman, Christopher A., Mannermaa, Arto, Kosma, Veli-Matti, Radice, Paolo, Peterlongo, Paolo, Marme, Frederik, Burwinkel, Barbara, van Deurzen, Carolien H. M., Hollestelle, Antoinette, Miller, Nicola, Kerin, Michael J., Lambrechts, Diether, Floris, Giuseppe, Wesseling, Jelle, Flyger, Henrik, Bojesen, Stig E., Yao, Song, Ambrosone, Christine B., Chenevix-Trench, Georgia, Truong, Therese, Guenel, Pascal, Rudolph, Anja, Chang-Claude, Jenny, Nevanlinna, Heli, Blomqvist, Carl, Czene, Kamila, Brand, Judith S., Olson, Janet E., Couch, Fergus J., Dunning, Alison M., Hall, Per, Easton, Douglas F., Pharoah, Paul D. P., Pinder, Sarah E., Schmidt, Marjanka K., Tomlinson, Ian, Roylance, Rebecca, Garcia-Closas, Montserrat, and Sawyer, Elinor J.
Abstract: Background: Ductal carcinoma in situ (DCIS) is a non-invasive form of breast cancer. It is often associated with invasive ductal carcinoma (IDC), and is considered to be a non-obligate precursor of IDC. It is not clear to what extent these two forms of cancer share low-risk susceptibility loci, or whether there are differences in the strength of association for shared loci. Methods: To identify genetic polymorphisms that predispose to DCIS, we pooled data from 38 studies comprising 5,067 cases of DCIS, 24,584 cases of IDC and 37,467 controls, all genotyped using the iCOGS chip. Results: Most (67 %) of the 76 known breast cancer predisposition loci showed an association with DCIS in the same direction as previously reported for invasive breast cancer. Case-only analysis showed no evidence for differences between associations for IDC and DCIS after considering multiple testing. Analysis by estrogen receptor (ER) status confirmed that loci associated with ER positive IDC were also associated with ER positive DCIS. Analysis of DCIS by grade suggested that two independent SNPs at 11q13.3 near CCND1 were specific to low/intermediate grade DCIS (rs75915166, rs554219). These associations with grade remained after adjusting for ER status and were also found in IDC. We found no novel DCIS-specific loci at a genome wide significance level of P < 5.0x10(-8). Conclusion: In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist.
Published: 2016

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