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2. Comparison of Patient Health Questionnaire-9, Edinburgh Postnatal Depression Scale and Hospital Anxiety and Depression – Depression subscale scores by administration mode: An individual participant data differential item functioning meta-analysis

Author

Azar, Marleine, Bhandari, Parash Mani, Chiovitti, Matthew J., He, Chen, Imran, Mahrukh, Krishnan, Ankur, Negeri, Zelalem, Neupane, Dipika, Riehm, Kira E., Yan, Xin Wei, Kloda, Lorie A., Henry, Melissa, Ismail, Zahinoor, Loiselle, Carmen G., Mitchell, Nicholas D., Al-Adawi, Samir, Alvarado, Rubén, Amtmann, Dagmar, Arroll, Bruce, Ayalon, Liat, Baradaran, Hamid R., Barnes, Jacqueline, Beck, Kevin R., Beck, Cheryl Tatano, Bernstein, Charles N., Bindt, Carola, Bombardier, Charles H., Boye, Birgitte, Büel-Drabe, Natalie, Buji, Ryna Imma, Bunevicius, Adomas, Butterworth, Peter, Can, Ceyhun, Carter, Gregory, Chagas, Marcos H., Chan, Juliana C.N., Chan, Lai Fong, Chen, Chih-Ken, Chibanda, Dixon, Chorwe-Sungani, Genesis, Clover, Kerrie, Conroy, Ronán M., Conway, Aaron, Conwell, Yeates, Correa, Humberto, Couto, Thiago Castro e, Cukor, Daniel, Daray, Federico M., de Man-van Ginkel, Janneke M., De Souza, Jennifer, Downing, Marina G., Eapen, Valsamma, Fann, Jesse R., Favez, Nicolas, Felice, Ethel, Fellmeth, Gracia, Ferentinos, Panagiotis P., Fernandes, Michelle, Field, Sally, Figueiredo, Barbara, Fischer, Felix H., Fisher, Jane R.W., Flint, Alastair J., Fujimori, Maiko, Fung, Daniel S.S., Gallagher, Pamela, Gandy, Milena, Gelaye, Bizu, Gholizadeh, Leila, Gibson, Lorna J., Goodyear-Smith, Felicity, Grassi, Luigi, Green, Eric P., Greeno, Catherine G., Hall, Brian J., Hantsoo, Liisa, Haroz, Emily E., Härter, Martin, Hegerl, Ulrich, Helle, Nadine, Hernando, Asuncion, Hides, Leanne, Hobfoll, Stevan E., Honikman, Simone, Howard, Louise M., Hyphantis, Thomas, Iglesias-González, Maria, Inagaki, Masatoshi, Jenewein, Josef, Jeon, Hong Jin, Jetté, Nathalie, Julião, Miguel, Kettunen, Pirjo A., Khamseh, Mohammad E., Kiely, Kim M., Kim, Sung-Wan, Kjærgaard, Marie, Kohlhoff, Jane, Kohrt, Brandon A., König, Hans-Helmut, Kozinszky, Zoltán, Kwan, Yunxin, Lamers, Femke, Lara, María Asunción, Leonardou, Angeliki A., Levin-Aspenson, Holly F., Liu, Shen-Ing, Löbner, Margrit, Loosman, Wim L., Lotrakul, Manote, Loureiro, Sonia R., Love, Anthony W., Löwe, Bernd, Luitel, Nagendra P., Lund, Crick, Maes, Michael, Malt, Ulrik F., Marrie, Ruth Ann, Marsh, Laura, Martínez, Pablo, Marx, Brian P., Matsuoka, Yutaka, McGuire, Anthony, Mehnert, Anja, Michopoulos, Ioannis, Sidik, Sherina Mohd, Müller-Nordhorn, Jacqueline, Muramatsu, Kumiko, Radoš, Sandra Nakić, Navarrete, Laura, Nelson, Christian J., Ng, Chong Guan, Nishi, Daisuke, O'Donnell, Meaghan L., O'Rourke, Suzanne J., Osório, Flávia L., Pabst, Alexander, Pasco, Julie A., Pawlby, Susan J., Peceliuniene, Jurate, Pence, Brian W., Persoons, Philippe, Petersen, Inge, Picardi, Angelo, Ponsford, Jennie L., Pugh, Stephanie L., Pulido, Federico, Quinn, Terence J., Quispel, Chantal, Rathod, Sujit D., Reme, Silje E., Reuter, Katrin, Riedel-Heller, Steffi G., Rooney, Alasdair G., Santos, Iná S., Saracino, Rebecca M., Schellekens, Melanie P.J., Schwarzbold, Marcelo L., Cankorur, Vesile Senturk, Shaaban, Juwita, Sharp, Deborah J., Sharpe, Louise, Shinn, Eileen H., Sidebottom, Abbey, Simard, Sébastien, Singer, Susanne, Skalkidou, Alkistis, Smith-Nielsen, Johanne, Spangenberg, Lena, Stafford, Lesley, Stein, Alan, Stewart, Robert C., Strobel, Natalie A., Su, Kuan-Pin, Sultan, Serge, Sundström-Poromaa, Inger, Sung, Sharon C., Suzuki, Keiko, Tadinac, Meri, Tan, Pei Lin Lynnette, Tandon, S. Darius, Taylor-Rowan, Martin, Teixeira, Antonio L., Tendais, Iva, Tiringer, Istvan, Töreki, Annamária, Tran, Thach D., Trevillion, Kylee, Tschorn, Mira, Turner, Alyna, Væver, Mette S., van der Feltz-Cornelis, Christina M., van Heyningen, Thandi, Vega-Dienstmaier, Johann M., Wagner, Michael, Wagner, Lynne I., Wang, Liang-Jen, Wang, Jian Li, Watson, David, Weyerer, Siegfried B., White, Jennifer, Whooley, Mary A., Wiese, Birgitt, Williams, Lana J., Winkley, Kirsty, Wynter, Karen, Yamada, Mitsuhiko, Yonkers, Kimberly A., Zeng, Qing Zhi, Zhang, Yuying, Harel, Daphna, Wu, Yin, Levis, Brooke, Fan, Suiqiong, Sun, Ying, Xu, Mingyao, Rice, Danielle B., Boruff, Jill, Markham, Sarah, Ioannidis, John P.A., Takwoingi, Yemisi, Patten, Scott B., Ziegelstein, Roy C., Cuijpers, Pim, Gilbody, Simon, Vigod, Simone, Akena, Dickens, Benedetti, Andrea, and Thombs, Brett D.

Published
2024
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3. Potentially serious incidental findings in the UK Biobank Imaging Study

Author

Gibson, Lorna Mary, Sudlow, Catherine, and Wardlaw, Joanna

Subjects
616.07, Magnetic Resonance Imaging, Incidental findings, research ethics, epidemiology
Abstract

The increased use of imaging across research, clinical and commercial contexts has generated debate and calls for evidence on the benefits and harms of incidental findings (defined as those which are unrelated to the purpose of imaging) to inform policy and practice. Evidence on clearly non-serious incidental findings is of limited clinical usefulness; this thesis therefore focuses on potentially serious incidental findings (PSIFs), defined as those which may indicate the possibility of a condition which, if it was confirmed, would carry a real prospect of seriously threatening life span, or of having a substantial impact on major body functions or quality of life. In 2014, the UK Biobank Imaging Study began performing brain, cardiac and body magnetic resonance imaging (MRI), dual-energy X-ray absorptiometry and carotid Doppler ultrasound, and aims to image 100,000 of its population-based participants. The imaging data can be combined with extensive sociodemographic, lifestyle, physical measures, biochemical, genetic and linked healthcare data, to generate a research resource which will facilitate studies into a wide range of diseases. Due to the scale of the UK Biobank Imaging Study, PSIFs are a particularly pertinent issue. UK Biobank therefore evaluates the impact of its protocol for handling PSIFs, the data from which form the basis of this thesis. This thesis aims to provide empirical data on seven themes relating to PSIFs: their prevalence and nature; follow-up and final diagnoses; factors associated with PSIFs and with serious final diagnoses; participants' understanding of consent to feedback of PSIFs; nonmedical impacts of feedback of PSIFs; opinions of receiving feedback of PSIFs; and the economic impact of feedback of PSIFs on hospital services. Chapter 1 outlines the scale of the challenge of incidental findings, and summarises current literature and gaps in our knowledge relating to each of the seven themes on PSIFs. Chapter 2 reviews systematically and meta-analyses published studies of brain and body MRI of apparently asymptomatic adults. Chapter 3 introduces the UK Biobank, the UK Biobank Imaging Study, and the rationale behind and protocol used to handle PSIFs in 100,000 largely asymptomatic participants: radiographer flagging of concerning images for a radiologist to review. Chapter 4 presents a study comparing two protocols to handle PSIFs in the first 1,000 imaged UK Biobank participants: radiographer flagging versus systematic radiologist review of all images. Chapter 5 investigates the factors associated with PSIFs and with serious final diagnoses. Chapter 6 examines the economic impact of feedback of PSIFs on hospital services, using linked routinely collected healthcare data. In the systematic review, pooled prevalences of PSIFs on brain, thorax, abdominal and brain and body MRI were: 1.4-1.7%; 1.3-3.0%; 1.9-4.5%; and 3.9-12.8% respectively, the upper estimates reflecting the inclusion of indeterminate findings. There was substantial heterogeneity, but few informative data on potential sources of this. Around half of PSIFs were suspected malignancies. Based on the first 7,334 participants in the UK Biobank Imaging Study (283 of whom had PSIFs), the PSIFs protocol had the largest influence on the prevalence of PSIFs and serious final diagnoses of any of the investigated factors: systematic radiologist review resulted in around 13 times more PSIFs and around four times more serious final diagnoses compared to radiographer flagging. A lower proportion of PSIFs detected by radiologists were finally diagnosed as serious compared to radiographer flagging (12% and 32% [Chapter 4 and 5]). Feedback of PSIFs resulted in substantial impacts in terms of: clinical assessments (all participants visited their general practitioner, and 90% underwent some form of other clinical assessment, mostly imaging or referral to a specialist [Chapter 4]); non-medical impacts on participants (including on emotional wellbeing, insurance and finances and work and activities in 17%, 9% and 6% respectively [Chapter 4]); and hospital service use and cost (81% of cases with PSIFs generated some hospital use and costs, which had increased compared to controls, and to cases' hospital use and costs during the year before feedback of a PSIF [Chapter 6]). Importantly, as around 80% of PSIFs turned out not to be serious (Chapters 2, 4 and 5), many of these impacts may be unnecessary. Despite these negative impacts, the vast majority of participants were glad to have received feedback of a PSIF and to have taken part in the imaging study (98% and 99% respectively), although almost a quarter changed their minds over time about whether or not feedback should always be given. Around a quarter of participants incorrectly thought they could choose to receive feedback and UK Biobank has improved its consent materials accordingly (Chapter 4). Feedback of PSIFs impacts on participants and publicly-funded health services (and in turn patients in need); most PSIFs turn out not to be serious and many of these impacts may be unnecessary. Researchers can substantially influence these impacts via IFs policies, which must be designed to minimise unnecessary harms, and be clearly explained to participants to facilitate informed consent. These, and other implications of this thesis are further described in Chapter 7, which also discusses the results in the context of the broader literature, outlines the strengths and limitations of this thesis, and suggests directions for future work.

Published
2019

4. Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

Author

Ghoussaini, Maya, Edwards, Stacey L, Michailidou, Kyriaki, Nord, Silje, Cowper-Sal Lari, Richard, Desai, Kinjal, Kar, Siddhartha, Hillman, Kristine M, Kaufmann, Susanne, Glubb, Dylan M, Beesley, Jonathan, Dennis, Joe, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Guo, Qi, Schmidt, Marjanka K, Shah, Mitul, Luben, Robert, Brown, Judith, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Klevebring, Daniel, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Lambrechts, Diether, Thienpont, Bernard, Neven, Patrick, Wildiers, Hans, Broeks, Annegien, Van't Veer, Laura J, Rutgers, Emiel J Th, Couch, Fergus J, Olson, Janet E, Hallberg, Emily, Vachon, Celine, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, Dos-Santos-Silva, Isabel, Gibson, Lorna, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K, Noh, Dong-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Wu, Anna H, Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O, Benitez, Javier, Pilar Zamora, M, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Qiuyin, Cox, Angela, Cross, Simon S, Reed, Malcolm WR, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Lindblom, Annika, Margolin, Sara, and Teo, Soo Hwang

Abstract

This corrects the article DOI: 10.1038/ncomms5999.

Published
2018

5. Correction: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Author

Ghoussaini, Maya, Edwards, Stacey L, Michailidou, Kyriaki, Nord, Silje, Cowper-Sal·lari, Richard, Desai, Kinjal, Kar, Siddhartha, Hillman, Kristine M, Kaufmann, Susanne, Glubb, Dylan M, Beesley, Jonathan, Dennis, Joe, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Guo, Qi, Schmidt, Marjanka K, Shah, Mitul, Luben, Robert, Brown, Judith, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Klevebring, Daniel, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Lambrechts, Diether, Thienpont, Bernard, Neven, Patrick, Wildiers, Hans, Broeks, Annegien, Van’t Veer, Laura J, Rutgers, Emiel J Th, Couch, Fergus J, Olson, Janet E, Hallberg, Emily, Vachon, Celine, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, dos-Santos-Silva, Isabel, Gibson, Lorna, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K, Noh, Dong-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Wu, Anna H, Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O, Benitez, Javier, Pilar Zamora, M, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Qiuyin, Cox, Angela, Cross, Simon S, Reed, Malcolm WR, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Lindblom, Annika, Margolin, Sara, and Teo, Soo Hwang

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer
Abstract

This corrects the article DOI: 10.1038/ncomms5999.

Published
2018

7. Patient Health Questionnaire-9 scores do not accurately estimate depression prevalence: individual participant data meta-analysis

Author

Levis, Brooke, Benedetti, Andrea, Ioannidis, John P.A., Sun, Ying, Negeri, Zelalem, He, Chen, Wu, Yin, Krishnan, Ankur, Bhandari, Parash Mani, Neupane, Dipika, Imran, Mahrukh, Rice, Danielle B., Riehm, Kira E., Saadat, Nazanin, Azar, Marleine, Boruff, Jill, Cuijpers, Pim, Gilbody, Simon, Kloda, Lorie A., McMillan, Dean, Patten, Scott B., Shrier, Ian, Ziegelstein, Roy C., Alamri, Sultan H., Amtmann, Dagmar, Ayalon, Liat, Baradaran, Hamid R., Beraldi, Anna, Bernstein, Charles N., Bhana, Arvin, Bombardier, Charles H., Carter, Gregory, Chagas, Marcos H., Chibanda, Dixon, Clover, Kerrie, Conwell, Yeates, Diez-Quevedo, Crisanto, Fann, Jesse R., Fischer, Felix H., Gholizadeh, Leila, Gibson, Lorna J., Green, Eric P., Greeno, Catherine G., Hall, Brian J., Haroz, Emily E., Ismail, Khalida, Jetté, Nathalie, Khamseh, Mohammad E., Kwan, Yunxin, Lara, Maria Asunción, Liu, Shen-Ing, Loureiro, Sonia R., Löwe, Bernd, Marrie, Ruth Ann, Marsh, Laura, McGuire, Anthony, Muramatsu, Kumiko, Navarrete, Laura, Osório, Flávia L., Petersen, Inge, Picardi, Angelo, Pugh, Stephanie L., Quinn, Terence J., Rooney, Alasdair G., Shinn, Eileen H., Sidebottom, Abbey, Spangenberg, Lena, Tan, Pei Lin Lynnette, Taylor-Rowan, Martin, Turner, Alyna, van Weert, Henk C., Vöhringer, Paul A., Wagner, Lynne I., White, Jennifer, Winkley, Kirsty, and Thombs, Brett D.

Published
2020
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8. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

Author

Orr, Nick, Dudbridge, Frank, Dryden, Nicola, Maguire, Sarah, Novo, Daniela, Perrakis, Eleni, Johnson, Nichola, Ghoussaini, Maya, Hopper, John, Southey, Melissa, Apicella, Carmel, Stone, Jennifer, Schmidt, Marjanka, Broeks, Annegien, Vant Veer, Laura, Hogervorst, Frans, Fasching, Peter, Haeberle, Lothar, Ekici, Arif, Beckmann, Matthias, Gibson, Lorna, Aitken, Zoe, Warren, Helen, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Chistof, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Sanchez, Marie, Bojesen, Stig, Nordestgaard, Børge, Nielsen, Sune, Flyger, Henrik, Benitez, Javier, Zamora, Maria, Arias Perez, Jose, Menéndez, Primitiva, Neuhausen, Susan, Brenner, Hermann, Dieffenbach, Aida, Arndt, Volker, Stegmaier, Christa, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Ko, Yon-Dschun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Bogdanova, Natalia, Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana, Chenevix-Trench, Georgia, Beesley, Jonathan, Lambrechts, Diether, Moisse, Matthieu, Floris, Guiseppe, Beuselinck, Benoit, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Peissel, Bernard, Pensotti, Valeria, Couch, Fergus, Olson, Janet, Slettedahl, Seth, Vachon, Celine, Giles, Graham, Milne, Roger, McLean, Catriona, Haiman, Christopher, Henderson, Brian, Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark, Labrèche, France, Dumont, Martine, Kristensen, Vessela, Alnæs, Grethe, Nord, Silje, Borresen-Dale, Anne-Lise, Zheng, Wei, and Deming-Halverson, Sandra

Subjects
Adult, Aged, Asian People, Breast Neoplasms, Chromosome Mapping, Chromosomes, Human, Pair 9, Enhancer Elements, Genetic, Estrogen Receptor alpha, Female, GATA3 Transcription Factor, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 3-alpha, Humans, Kruppel-Like Factor 4, Kruppel-Like Transcription Factors, Middle Aged, Polymorphism, Single Nucleotide, Risk, White People
Abstract

We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88-0.92]; P-value = 1.58 × 10(-25)). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans ∼14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08-1.17]; P-value = 7.89 × 10(-09)) and rs13294895 (OR = 1.09 [1.06-1.12]; P-value = 2.97 × 10(-11)). SNP rs10816625, but not rs13294895, was also associated with risk of breast cancer in Asian individuals (OR = 1.12 [1.06-1.18]; P-value = 2.77 × 10(-05)). Functional genomic annotation using data derived from breast cancer cell-line models indicates that these SNPs localise to putative enhancer elements that bind known drivers of hormone-dependent breast cancer, including ER-α, FOXA1 and GATA-3. In vitro analyses indicate that rs10816625 and rs13294895 have allele-specific effects on enhancer activity and suggest chromatin interactions with the KLF4 gene locus. These results demonstrate the power of dense genotyping in large studies to identify independent susceptibility variants. Analysis of associations using subjects with different ancestry, combined with bioinformatic and genomic characterisation, can provide strong evidence for the likely causative alleles and their functional basis.

Published
2015

9. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

Author

Ghoussaini, Maya, Edwards, Stacey L, Michailidou, Kyriaki, Nord, Silje, Cowper-Sal Lari, Richard, Desai, Kinjal, Kar, Siddhartha, Hillman, Kristine M, Kaufmann, Susanne, Glubb, Dylan M, Beesley, Jonathan, Dennis, Joe, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Guo, Qi, Schmidt, Marjanka K, Shah, Mitul, Luben, Robert, Brown, Judith, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Klevebring, Daniel, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Lambrechts, Diether, Thienpont, Bernard, Neven, Patrick, Wildiers, Hans, Broeks, Annegien, Van't Veer, Laura J, Th Rutgers, Emiel J, Couch, Fergus J, Olson, Janet E, Hallberg, Emily, Vachon, Celine, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, Dos-Santos-Silva, Isabel, Gibson, Lorna, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K, Noh, Dong-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Wu, Anna H, Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Qiuyin, Cox, Angela, Cross, Simon S, Reed, Malcolm WR, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Lindblom, Annika, Margolin, Sara, and Teo, Soo Hwang

Subjects
Australian Ovarian Cancer Management Group, Cell Line, Tumor, Chromosomes, Human, Pair 2, Chromatin, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Insulin-Like Growth Factor Binding Protein 5, RNA, Messenger, Polymorphism, Single Nucleotide, Female, Hepatocyte Nuclear Factor 3-alpha, Promoter Regions, Genetic, MCF-7 Cells, Cell Line, Tumor, Chromosomes, Human, Pair 2, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, RNA, Messenger
Abstract

GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84-0.87; P=1.7 × 10(-43)) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology.

Published
2014

10. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.

Author

Johnson, Nichola, Dudbridge, Frank, Orr, Nick, Gibson, Lorna, Jones, Michael E, Schoemaker, Minouk J, Folkerd, Elizabeth J, Haynes, Ben P, Hopper, John L, Southey, Melissa C, Dite, Gillian S, Apicella, Carmel, Schmidt, Marjanka K, Broeks, Annegien, Van't Veer, Laura J, Atsma, Femke, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Renner, Stefan P, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Guénel, Pascal, Truong, Therese, Cordina, Emilie, Menegaux, Florence, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Milne, Roger, Zamora, M Pilar, Arias Perez, Jose Ignacio, Benitez, Javier, Bernstein, Leslie, Anton-Culver, Hoda, Ziogas, Argyrios, Clarke Dur, Christina, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Dieffenbach, Aida Karina, Meindl, Alfons, Heil, Joerg, Bartram, Claus R, Schmutzler, Rita K, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Dörk, Thilo, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Chenevix-Trench, Georgia, Beesley, Jonathan, kConFab Investigators, Australian Ovarian Cancer Study Group, Wu, Anna H, Van den Berg, David, Tseng, Chiu-Chen, Lambrechts, Diether, Smeets, Dominiek, Neven, Patrick, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Pensotti, Valeria, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, Haiman, Chris, Simard, Jacques, and Goldberg, Mark S

Subjects
GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, kConFab Investigators, Australian Ovarian Cancer Study Group, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Reproductive History, Risk Factors, Age Factors, Age of Onset, Premenopause, Menarche, Genotype, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Cytochrome P-450 CYP3A, Genetic Association Studies, Human Genome, Aging, Clinical Research, Cancer, Genetics, Breast Cancer, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

IntroductionWe have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.MethodsWe further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.ResultsWe confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (P(trend) = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (P(trend) = 0.005) but not cases (P(trend) = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (P(het) = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age ≥15 years (OR(het) = 0.84, 95% CI 0.75, 0.94; OR(hom) = 0.81, 95% CI 0.51, 1.30; P(trend) = 0.002) but not for those who had their menarche age ≤11 years (OR(het) = 1.06, 95% CI 0.95, 1.19, OR(hom) = 1.07, 95% CI 0.67, 1.72; P(trend) = 0.29).ConclusionsTo our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.

Published
2014

12. Breastfeeding: A Potential Excretion Route for Mothers and Implications for Infant Exposure to Perfluoroalkyl Acids

Author

Mondal, Debapriya, Weldon, Rosana H, Armstrong, Ben G, Gibson, Lorna J, Lopez-Espinosa, Maria-Jose, Shin, Hyeong-Moo, and Fletcher, Tony

Subjects
perfluorinated compounds, human-milk, united-states, serum, perfluorooctanoate, lactation, chemicals, plasma, ethers, women
Abstract

Background: The presence of perfluoroalkyl acids (PFAAs) in breast milk has been documented, but their lactational transfer has been rarely studied. Determination of the elimination rates of, these chemicals during breastfeeding is important and critical for assessing exposure in mothers, and infants., O b jectives: We aimed to investigate the association between breastfeeding and maternal serum, concentrations of perfluorooctanoic acid (PFOA), perfluorooctane sulfonate (PFOS), perfluorononanoic, acid (PFNA), and perfluorohexane sulfonate (PFHxS). For a subset of the population, for, whom we also have their infants' measurements, we investigated associations of breastfeeding with, infant serum PFAA concentrations., Methods: The present analysis included 633 women from the C8 Science Panel Study who had, a child < 3.5 years of age and who provided blood samples and reported detailed information on, breastfeeding at the time of survey. PFAA serum concentrations were available for all mothers and, 8% (n=49) of the infants. Maternal and infant serum concentrations were regressed on duration of, breastfeeding. R esults: Each month of breastfeeding was associated with lower maternal serum concentrations, of PFOA (-3%, 95% CI:-5, -2%), PFOS (-3%, 95% CI:-3, -2%), PFNA (-2%, 95% CI, -2, -1%), and PFHxS (-1%, 95% CI:-2, 0%). The infant PFOA and PFOS serum concentrations, were 6% (95% CI: 1, 10%) and 4% (95% CI: 1, 7%) higher per month of breastfeeding., C onclusions: Breast milk is the optimal food for infants, but is also a PFAA excretion route for, lactating mothers and exposure route for nursing infants.

Published
2013

14. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Author

Michailidou, Kyriaki, Hall, Per, Gonzalez-Neira, Anna, Ghoussaini, Maya, Dennis, Joe, Milne, Roger L, Schmidt, Marjanka K, Chang-Claude, Jenny, Bojesen, Stig E, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Lee, Andrew, Turnbull, Clare, Rahman, Nazneen, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Hopper, John L, Southey, Melissa C, Makalic, Enes, Schmidt, Daniel F, Uitterlinden, Andre G, Hofman, Albert, Hunter, David J, Chanock, Stephen J, Vincent, Daniel, Bacot, François, Tessier, Daniel C, Canisius, Sander, Wessels, Lodewyk FA, Haiman, Christopher A, Shah, Mitul, Luben, Robert, Brown, Judith, Luccarini, Craig, Schoof, Nils, Humphreys, Keith, Li, Jingmei, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Couch, Fergus J, Wang, Xianshu, Vachon, Celine, Stevens, Kristen N, Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Johnson, Nichola, Aitken, Zoe, Aaltonen, Kirsimari, Heikkinen, Tuomas, Broeks, Annegien, Veer, Laura J Van't, van der Schoot, C Ellen, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Menegaux, Florence, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Zamora, M Pilar, Perez, Jose Ignacio Arias, Pita, Guillermo, Alonso, M Rosario, Cox, Angela, Brock, Ian W, Cross, Simon S, Reed, Malcolm WR, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, and Henderson, Brian E

Subjects
Biological Sciences, Genetics, Human Genome, Prevention, Breast Cancer, Cancer, Breast Neoplasms, Case-Control Studies, Cooperative Behavior, Female, Gene-Environment Interaction, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk Factors, Breast and Ovarian Cancer Susceptibility Collaboration, Hereditary Breast and Ovarian Cancer Research Group Netherlands, kConFab Investigators, Australian Ovarian Cancer Study Group, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

Published
2013

15. Evidence of Gene�Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

Author

Nickels, Stefan, Truong, Thérèse, Hein, Rebecca, Stevens, Kristen, Buck, Katharina, Behrens, Sabine, Eilber, Ursula, Schmidt, Martina, Häberle, Lothar, Vrieling, Alina, Gaudet, Mia, Figueroa, Jonine, Schoof, Nils, Spurdle, Amanda B, Rudolph, Anja, Fasching, Peter A, Hopper, John L, Makalic, Enes, Schmidt, Daniel F, Southey, Melissa C, Beckmann, Matthias W, Ekici, Arif B, Fletcher, Olivia, Gibson, Lorna, dos Santos Silva, Isabel, Peto, Julian, Humphreys, Manjeet K, Wang, Jean, Cordina-Duverger, Emilie, Menegaux, Florence, Nordestgaard, Børge G, Bojesen, Stig E, Lanng, Charlotte, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Clarke, Christina A, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Harth, Volker, GENICA Network, The, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, kConFab, The, Group, AOCS Management, Lambrechts, Diether, Smeets, Dominiek, Neven, Patrick, Paridaens, Robert, Flesch-Janys, Dieter, Obi, Nadia, Wang-Gohrke, Shan, Couch, Fergus J, Olson, Janet E, Vachon, Celine M, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, Offit, Kenneth, John, Esther M, Miron, Alexander, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Chanock, Stephen J, Lissowska, Jolanta, Liu, Jianjun, Cox, Angela, Cramp, Helen, Connley, Dan, Balasubramanian, Sabapathy, Dunning, Alison M, Shah, Mitul, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen, Cahoon, Elizabeth K, Rajaraman, Preetha, Sigurdson, Alice J, Doody, Michele M, Guénel, Pascal, Pharoah, Paul D. P, Schmidt, Marjanka K, Hall, Per, Easton, Doug F, Garcia-Closas, Montserrat, Milne, Roger L, Chang-Claude, Jenny, and Horwitz, Marshall S

Subjects
Genome-Wide Association, Mammographic Density, 14q24.1 Rad51l1, Hormone-Therapy, Pooled Analysis, Tumor Subtypes, Variants, Consortium, Fgfr2, Women
Published
2013

17. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Author

Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, GENICA Network, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert AEM, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, kConFab, AOCS Study Group, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, SWE-BRCA, Loman, Niklas, Karlsson, Per, and Stenmark Askmalm, Marie

Subjects
GENICA Network, kConFab, AOCS Study Group, SWE-BRCA, HEBON, EMBRACE, BCAC/CIMBA, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Receptors, Estrogen, Confidence Intervals, Proportional Hazards Models, Odds Ratio, Risk Factors, Heterozygote, Polymorphism, Single Nucleotide, Alleles, Middle Aged, Female, Genetic Association Studies, Chromosomes, Human, Pair 6, Polymorphism, Single Nucleotide, Receptors, Estrogen, General Science & Technology
Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

Published
2012

18. 7q21-rs6964587 and breast cancer risk: an extended case–control study by the Breast Cancer Association Consortium

Author

Milne, Roger L, Lorenzo-Bermejo, Justo, Burwinkel, Barbara, Malats, Núria, Arias, Jose Ignacio, Zamora, M Pilar, Benítez, Javier, Humphreys, Manjeet K, García-Closas, Montserrat, Chanock, Stephen J, Lissowska, Jolanta, Sherman, Mark E, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Anton-Culver, Hoda, Ziogas, Argyrios, Devilee, Peter, van Asperen, Christie J, Tollenaar, Rob AEM, Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Irwanto, Astrid K, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Nordestgaard, Børge G, Bojesen, Stig E, Flyger, Henrik, Margolin, Sara, Lindblom, Annika, Fasching, Peter A, Schulz-Wendtland, Ruediger, Ekici, Arif B, Beckmann, Matthias W, Wang-Gohrke, Shan, Shen, Chen-Yang, Yu, Jyh-Cherng, Hsu, Huan-Ming, Wu, Pei-Ei, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, English, Dallas R, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Beesley, Jonathan, Chen, Xiaoqing, Investigators, kConFab, Group, AOCS, Fletcher, Olivia, Gibson, Lorna, dos Santos Silva, Isabel, Peto, Julian, Frank, Bernd, Heil, Joerg, Meindl, Alfons, Chang-Claude, Jenny, Hein, Rebecca, Vrieling, Alina, Flesch-Janys, Dieter, Southey, Melissa C, Smith, Letitia, Apicella, Carmel, Hopper, John L, Dunning, Alison M, Pooley, Karen A, Pharoah, Paul DP, Hamann, Ute, Pesch, Beate, Ko, Yon-Dschun, Network, The GENICA, Easton, Douglas F, and Chenevix-Trench, Georgia

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Breast Cancer, Clinical Research, Cancer, Aetiology, 2.1 Biological and endogenous factors, A Kinase Anchor Proteins, Alleles, Asian People, Breast Neoplasms, Case-Control Studies, Chromosomes, Human, Pair 7, Cytoskeletal Proteins, Female, Genes, Recessive, Genetic Predisposition to Disease, Humans, Logistic Models, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors, White People, AOCS Group, GENICA Network, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundUsing the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies.MethodsThe authors genotyped 14,843 invasive case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression.ResultsFor white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33,376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p = 0.001). The OR was greater at younger ages (p trend = 0.01).ConclusionThis may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

Published
2011

19. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: a combined case-control study

Author

Milne, Roger L, Gaudet, Mia M, Spurdle, Amanda B, Fasching, Peter A, Couch, Fergus J, Benítez, Javier, Arias Pérez, José Ignacio, Zamora, M Pilar, Malats, Núria, dos Santos Silva, Isabel, Gibson, Lorna J, Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E, Lissowska, Jolanta, Hopper, John L, Dite, Gillian S, Apicella, Carmel, Southey, Melissa C, Sigurdson, Alice J, Linet, Martha S, Schonfeld, Sara J, Freedman, D Michal, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Auvinen, Päivi, Andrulis, Irene L, Glendon, Gord, Knight, Julia A, Weerasooriya, Nayana, Cox, Angela, Reed, Malcolm WR, Cross, Simon S, Dunning, Alison M, Ahmed, Shahana, Shah, Mitul, Brauch, Hiltrud, Ko, Yon-Dschun, Brüning, Thomas, hiltrud.brauch@ikp-stuttgart.de, Lambrechts, Diether, Reumers, Joke, Smeets, Ann, Wang-Gohrke, Shan, Hall, Per, Czene, Kamila, Liu, Jianjun, Irwanto, Astrid K, Chenevix-Trench, Georgia, Holland, Helene, Georgia.Trench@qimr.edu.au, Giles, Graham G, Baglietto, Laura, Severi, Gianluca, Bojensen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, John, Esther M, West, Dee W, Whittemore, Alice S, Vachon, Celine, Olson, Janet E, Fredericksen, Zachary, Kosel, Matthew, Hein, Rebecca, Vrieling, Alina, Flesch-Janys, Dieter, Heinz, Judith, Beckmann, Matthias W, Heusinger, Katharina, Ekici, Arif B, Haeberle, Lothar, Humphreys, Manjeet K, Morrison, Jonathan, Easton, Doug F, Pharoah, Paul D, García-Closas, Montserrat, Goode, Ellen L, and Chang-Claude, Jenny

Abstract

Abstract Introduction Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in the Breast Cancer Association Consortium. Methods We evaluated two-way interactions between each of age at menarche, ever having had a live birth, number of live births, age at first birth and body mass index (BMI) and each of 12 single nucleotide polymorphisms (SNPs) (10q26-rs2981582 (FGFR2), 8q24-rs13281615, 11p15-rs3817198 (LSP1), 5q11-rs889312 (MAP3K1), 16q12-rs3803662 (TOX3), 2q35-rs13387042, 5p12-rs10941679 (MRPS30), 17q23-rs6504950 (COX11), 3p24-rs4973768 (SLC4A7), CASP8-rs17468277, TGFB1-rs1982073 and ESR1-rs3020314). Interactions were tested for by fitting logistic regression models including per-allele and linear trend main effects for SNPs and risk factors, respectively, and single-parameter interaction terms for linear departure from independent multiplicative effects. Results These analyses were applied to data for up to 26,349 invasive breast cancer cases and up to 32,208 controls from 21 case-control studies. No statistical evidence of interaction was observed beyond that expected by chance. Analyses were repeated using data from 11 population-based studies, and results were very similar. Conclusions The relative risks for breast cancer associated with the common susceptibility variants identified to date do not appear to vary across women with different reproductive histories or body mass index (BMI). The assumption of multiplicative combined effects for these established genetic and other risk factors in risk prediction models appears justified.

Published
2010

24. The UK Biobank imaging enhancement of 100,000 participants: rationale, data collection, management and future directions

Author

Littlejohns, Thomas J., Holliday, Jo, Gibson, Lorna M., Garratt, Steve, Oesingmann, Niels, Alfaro-Almagro, Fidel, Bell, Jimmy D., Boultwood, Chris, Collins, Rory, Conroy, Megan C., Crabtree, Nicola, Doherty, Nicola, Frangi, Alejandro F., Harvey, Nicholas C., Leeson, Paul, Miller, Karla L., Neubauer, Stefan, Petersen, Steffen E., Sellors, Jonathan, Sheard, Simon, Smith, Stephen M., Sudlow, Cathie L. M., Matthews, Paul M., and Allen, Naomi E.

Published
2020
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25. "We're Just Tired": Influences on Sexual Activity Among Male-Partnered Women in Midlife; A Mixed Method Study.

Author

Wellings, Kaye, Gibson, Lorna, Lewis, Ruth, Datta, Jessica, Macdowall, Wendy, and Mitchell, Kirstin

Subjects
*MIDDLE age, *SEXUAL excitement, *MENOPAUSE, *MIXED methods research, *SOCIAL context
Abstract

Studies into decline in sexual activity among women in midlife produce equivocal findings, some implicating hormonal and physiological changes, others psycho-social and environmental factors. Women's perspectives rarely inform interpretation of the data. Associations between sexual satisfaction, activity and function, and health and lifestyle factors were explored using data from 2133 female participants in the third British National Survey of Sexual Attitudes and Lifestyles (2010–2012). Semi-structured interviews (2012–2015) with 23 women aged 45–59 reporting sexual dissatisfaction in Natsal-3 explored their perceptions of the influences on their sexual activity. Analysis of the survey data showed sexual dissatisfaction to be less common than low frequency and function. Neither menopausal stage nor age was independently associated with any of the dimensions of sexual experience. Only relationship unhappiness was independently associated with all three and communicational difficulty with two (dissatisfaction and lower function). In-depth interviews identified influences on sexual activity not captured in the survey. Tiredness attributed to contemporary challenges of midlife was a dominant theme. Relationship quality mediated its adverse impact. Sexual experience in midlife must be interpreted in light of both life-stage and era, notably, the increasing demands on women in contemporary society and their impact on vitality. Efforts to address sexual wellbeing should take account of the wider social context. [ABSTRACT FROM AUTHOR]

Published
2023
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26. Data from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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27. Supplementary Table 3 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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28. Supplementary Table 1 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
Full Text
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29. Supplementary Table 2 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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30. Supplementary Table 4 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

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2023
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31. Data from Premenopausal Mammographic Density in Relation to Cyclic Variations in Endogenous Sex Hormone Levels, Prolactin, and Insulin-like Growth Factors

Author

Walker, Kate, primary, Fletcher, Olivia, primary, Johnson, Nichola, primary, Coupland, Ben, primary, McCormack, Valerie A., primary, Folkerd, Elizabeth, primary, Gibson, Lorna, primary, Hillier, Stephen G., primary, Holly, Jeff M., primary, Moss, Sue, primary, Dowsett, Mitchell, primary, Peto, Julian, primary, and dos Santos Silva, Isabel, primary

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2023
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32. Supplementary Tables 1-4 from Premenopausal Mammographic Density in Relation to Cyclic Variations in Endogenous Sex Hormone Levels, Prolactin, and Insulin-like Growth Factors

Author

Walker, Kate, primary, Fletcher, Olivia, primary, Johnson, Nichola, primary, Coupland, Ben, primary, McCormack, Valerie A., primary, Folkerd, Elizabeth, primary, Gibson, Lorna, primary, Hillier, Stephen G., primary, Holly, Jeff M., primary, Moss, Sue, primary, Dowsett, Mitchell, primary, Peto, Julian, primary, and dos Santos Silva, Isabel, primary

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2023
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33. Supplementary Figure and Table Legends from Premenopausal Mammographic Density in Relation to Cyclic Variations in Endogenous Sex Hormone Levels, Prolactin, and Insulin-like Growth Factors

Author

Walker, Kate, primary, Fletcher, Olivia, primary, Johnson, Nichola, primary, Coupland, Ben, primary, McCormack, Valerie A., primary, Folkerd, Elizabeth, primary, Gibson, Lorna, primary, Hillier, Stephen G., primary, Holly, Jeff M., primary, Moss, Sue, primary, Dowsett, Mitchell, primary, Peto, Julian, primary, and dos Santos Silva, Isabel, primary

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2023
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34. Supplementary Figure 1 from Premenopausal Mammographic Density in Relation to Cyclic Variations in Endogenous Sex Hormone Levels, Prolactin, and Insulin-like Growth Factors

Author

Walker, Kate, primary, Fletcher, Olivia, primary, Johnson, Nichola, primary, Coupland, Ben, primary, McCormack, Valerie A., primary, Folkerd, Elizabeth, primary, Gibson, Lorna, primary, Hillier, Stephen G., primary, Holly, Jeff M., primary, Moss, Sue, primary, Dowsett, Mitchell, primary, Peto, Julian, primary, and dos Santos Silva, Isabel, primary

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2023
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35. Supplementary Information from Premenopausal Mammographic Density in Relation to Cyclic Variations in Endogenous Sex Hormone Levels, Prolactin, and Insulin-like Growth Factors

Author

Walker, Kate, primary, Fletcher, Olivia, primary, Johnson, Nichola, primary, Coupland, Ben, primary, McCormack, Valerie A., primary, Folkerd, Elizabeth, primary, Gibson, Lorna, primary, Hillier, Stephen G., primary, Holly, Jeff M., primary, Moss, Sue, primary, Dowsett, Mitchell, primary, Peto, Julian, primary, and dos Santos Silva, Isabel, primary

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2023
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43. Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics

Author

Feng, Yen-Chen Anne, Cho, Kelly, Lindstrom, Sara, Kraft, Peter, Cormack, Jean, Liang, Liming, Driver, Jane A., Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Gruber, Stephen B., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Peters, Ulrike, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Hunter, David J., Lindström, Sara, Kraft, Peter, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Severi, Gianluca, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Kraft, Peter, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Bickeböller, Heike, Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Landi, Maria Teresa, Heinrich, Joachim, Risch, Angela, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Amos, Christopher I., IGAP Consortium, Colorectal Transdisciplinary Study (CORECT), Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), and Transdisciplinary Research in Cancer of the Lung (TRICL)

Published
2017
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44. Narrating Past to Present: Conveying the Needs and Values of Older People to Young Digital Technology Designers

Author

Valentine, Elizabeth, Bobrowicz, Ania, Coleman, Graeme, Gibson, Lorna, Hanson, Vicki L., Kundu, Saikat, McKay, Alison, Holt, Raymond, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, and Stephanidis, Constantine, editor

Published
2011
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45. External validation of a shortened screening tool using individual participant data meta-analysis: A case study of the Patient Health Questionnaire-Dep-4

Author

Harel, Daphna, primary, Levis, Brooke, additional, Sun, Ying, additional, Fischer, Felix, additional, Ioannidis, John P.A., additional, Cuijpers, Pim, additional, Patten, Scott B., additional, Ziegelstein, Roy C., additional, Markham, Sarah, additional, Benedetti, Andrea, additional, Thombs, Brett D., additional, He, Chen, additional, Wu, Yin, additional, Krishnan, Ankur, additional, Mani Bhandari, Parash, additional, Neupane, Dipika, additional, Negeri, Zelalem, additional, Imran, Mahrukh, additional, Rice, Danielle B., additional, Riehm, Kira E., additional, Azar, Marleine, additional, Levis, Alexander W., additional, Boruff, Jill, additional, Gilbody, Simon, additional, Kloda, Lorie A., additional, Amtmann, Dagmar, additional, Ayalon, Liat, additional, Baradaran, Hamid R., additional, Beraldi, Anna, additional, Bernstein, Charles N., additional, Bhana, Arvin, additional, Imma Buji, Ryna, additional, Chagas, Marcos H., additional, C. N. Chan, Juliana, additional, Fong Chan, Lai, additional, Chibanda, Dixon, additional, Conway, Aaron, additional, Daray, Federico M., additional, de Man-van Ginkel, Janneke M., additional, Diez-Quevedo, Crisanto, additional, Field, Sally, additional, R. W. Fisher, Jane, additional, Fung, Daniel, additional, Garman, Emily C., additional, Flisher, Alan J, additional, Gelaye, Bizu, additional, Gholizadeh, Leila, additional, Gibson, Lorna J., additional, Green, Eric P., additional, Hall, Brian J., additional, Hantsoo, Liisa, additional, Haroz, Emily E., additional, Härter, Martin, additional, Hegerl, Ulrich, additional, Hides, Leanne, additional, Hobfoll, Stevan E., additional, Honikman, Simone, additional, Hudson, Marie, additional, Hyphantis, Thomas, additional, Inagaki, Masatoshi, additional, Jin Jeon, Hong, additional, Jetté, Nathalie, additional, Khamseh, Mohammad E., additional, Köhler, Sebastian, additional, Kohrt, Brandon A., additional, Kwan, Yunxin, additional, Lamers, Femke, additional, Asunción Lara, Maria, additional, Levin-Aspenson, Holly F., additional, Liu, Shen-Ing, additional, Lotrakul, Manote, additional, Loureiro, Sonia R., additional, Löwe, Bernd, additional, Luitel, Nagendra P., additional, Lund, Crick, additional, Ann Marrie, Ruth, additional, Marx, Brian P., additional, Mohd Sidik, Sherina, additional, Munhoz, Tiago N., additional, Muramatsu, Kumiko, additional, E. M. Nakku, Juliet, additional, Navarrete, Laura, additional, Osório, Flávia L., additional, Persoons, Philippe, additional, Picardi, Angelo, additional, Pugh, Stephanie L., additional, Quinn, Terence J., additional, Rancans, Elmars, additional, Rathod, Sujit D., additional, Reuter, Katrin, additional, Rowe, Heather J., additional, Santos, Iná S., additional, Schram, Miranda T., additional, Shaaban, Juwita, additional, Shinn, Eileen H., additional, Spangenberg, Lena, additional, Stafford, Lesley, additional, Sung, Sharon C., additional, Suzuki, Keiko, additional, Lin Lynnette Tan, Pei, additional, Taylor-Rowan, Martin, additional, Tran, Thach D., additional, van der Feltz-Cornelis, Christina M., additional, van Heyningen, Thandi, additional, van Weert, Henk C., additional, Wagner, Lynne I., additional, Li Wang, Jian, additional, Watson, David, additional, Wynter, Karen, additional, Yamada, Mitsuhiko, additional, Zhi Zeng, Qing, additional, and Zhang, Yuying, additional

Published
2022
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