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1. Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

Author

Sosinsky, Alona, Ambrose, John, Cross, William, Turnbull, Clare, Henderson, Shirley, Jones, Louise, Hamblin, Angela, Arumugam, Prabhu, Chan, Georgia, Chubb, Daniel, Noyvert, Boris, Mitchell, Jonathan, Walker, Susan, Bowman, Katy, Pasko, Dorota, Buongermino Pereira, Marianna, Volkova, Nadezda, Rueda-Martin, Antonio, Perez-Gil, Daniel, Lopez, Javier, Pullinger, John, Siddiq, Afshan, Zainy, Tala, Choudhury, Tasnim, Yavorska, Olena, Fowler, Tom, Bentley, David, Kingsley, Clare, Hing, Sandra, Deans, Zandra, Rendon, Augusto, Hill, Sue, Caulfield, Mark, and Murugaesu, Nirupa

Published
2024
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2. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Author

Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Popp, Bernt, Torres, Vicente E., Hogan, Marie C., Somlo, Stefan, Watnick, Terry J., Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter C., Drenth, Joost P.H., and Halbritter, Jan

Published
2024
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3. Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Author

Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, PerezGil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Sadeghi-Alavijeh, Omid, Chan, Melanie M.Y., Moochhala, Shabbir H., Howles, Sarah, Gale, Daniel P., and Böckenhauer, Detlef

Published
2023
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4. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, and Guerrini, Renzo

Published
2023
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6. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Author

Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela, Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric Jean, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola M.E., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., and Steet, Richard

Published
2023
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7. Whole-genome sequencing reveals host factors underlying critical COVID-19

Author

Kousathanas, Athanasios, Pairo-Castineira, Erola, Rawlik, Konrad, Stuckey, Alex, Odhams, Christopher A., Walker, Susan, Russell, Clark D., Malinauskas, Tomas, Wu, Yang, Millar, Jonathan, Shen, Xia, Elliott, Katherine S., Griffiths, Fiona, Oosthuyzen, Wilna, Morrice, Kirstie, Keating, Sean, Wang, Bo, Rhodes, Daniel, Klaric, Lucija, Zechner, Marie, Parkinson, Nick, Siddiq, Afshan, Goddard, Peter, Donovan, Sally, Maslove, David, Nichol, Alistair, Semple, Malcolm G., Zainy, Tala, Maleady-Crowe, Fiona, Todd, Linda, Salehi, Shahla, Knight, Julian, Elgar, Greg, Chan, Georgia, Arumugam, Prabhu, Patch, Christine, Rendon, Augusto, Bentley, David, Kingsley, Clare, Kosmicki, Jack A., Horowitz, Julie E., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A. R., Justice, Anne, Mirshahi, Tooraj, Oetjens, Matthew, Rader, Daniel J., Ritchie, Marylyn D., Verma, Anurag, Fowler, Tom A., Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J. M., Elliott, Paul, Walsh, Timothy, Tenesa, Albert, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Ponting, Chris P., Vitart, Veronique, Wilson, James F., Yang, Jian, Bretherick, Andrew D., Scott, Richard H., Hendry, Sara Clohisey, Moutsianas, Loukas, Law, Andy, Caulfield, Mark J., and Baillie, J. Kenneth

Published
2022
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8. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Author

McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, and Tucci, Arianna

Published
2022
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9. Assessment of QTc-interval Prolonging Medication Utilization and Associated Potential Drug-Drug Interactions in Hospitalized Cardiac Patients: A CrossSectional Study in Cardiology.

Author

Humza, Ahmad Ullah, Siddiq, Afshan, Baig, Sadia Ghousia, Ali, Asif, Ahmed, Imran, and Yousuf, Jibran Bin

Abstract

Background: Several medications are linked to QTc-interval prolongation and torsades de pointes (TdP), a risk that is more common among hospitalized patients due to polypharmacy and associated QTc-interval-prolonging drug-drug interactions (QTc-pDDIs). Objective: This study aimed to identify the prevalence of QTc-interval-prolonging drug (QTc-Drug) utilization and QTc-pDDIs among postoperative cardiac patients admitted to the National Institute of Cardiovascular Diseases (NICVD). Method: We conducted a cross-sectional study at the NICVD, reviewing patients' medication charts for the use of QTc-Drugs and QTc-pDDIs. The CredibleMeds list was used to identify drugs associated with QTc-interval prolongation, while Micromedex Drug-Int.® and Lexicomp Interact ® were utilized to screen for QTc-pDDIs. Results: A total of 384 patients, with an average age of 48.9 ± 13.9 years, were included in the study. On average, patients used 10.3 ± 1.7 medications. Of the 3,956 medications prescribed, 22.9% were QTc-Drugs. The most frequently used QTc-Drug classes were diuretics (69.3%), anti-emetics (61.5%), and proton pump inhibitors (51.0%). Overall, 99.7% of patients received at least one QTc-Drug. The most frequent QTc-pDDI was ciprofloxacin-domperidone (7.6%), classified as major by Micromedex and a category B interaction by Lexicomp. Conclusion: The prevalence of QTc-Drugs was very high among postoperative cardiac patients, with nearly all patients (99.7%) receiving at least one QTc-Drug. The most common QTc-pDDI was ciprofloxacin-domperidone (7.6%), identified as a major interaction by Micromedex and a category B interaction by Lexicomp. Category X (contraindicated) QTc-pDDIs should be avoided in hospitalized patients. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Author

Schönauer, Ria, primary, Sierks, Dana, additional, Boerrigter, Melissa, additional, Jawaid, Tabinda, additional, Caroff, Lea, additional, Audrezet, Marie-Pierre, additional, Friedrich, Anja, additional, Shaw, Melissa, additional, Degenhardt, Jan, additional, Forberger, Mirjam, additional, de Fallois, Jonathan, additional, Bläker, Hendrik, additional, Bergmann, Carsten, additional, Gödiker, Juliana, additional, Schindler, Philipp, additional, Schlevogt, Bernhard, additional, Müller, Roman-U., additional, Berg, Thomas, additional, Patterson, Ilse, additional, Griffiths, William J., additional, Sayer, John A., additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Elgar, Greg, additional, Fowler, Tom, additional, Giess, Adam, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Pereira, Mariana Buongermino, additional, Perez-Gil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, Popp, Bernt, additional, Torres, Vicente E., additional, Hogan, Marie C., additional, Somlo, Stefan, additional, Watnick, Terry J., additional, Nevens, Frederik, additional, Besse, Whitney, additional, Cornec-Le Gall, Emilie, additional, Harris, Peter C., additional, Drenth, Joost P.H., additional, and Halbritter, Jan, additional

Published
2024
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12. Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

Author

Carrat, Gaelle R, Hu, Ming, Nguyen-Tu, Marie-Sophie, Chabosseau, Pauline, Gaulton, Kyle J, van de Bunt, Martijn, Siddiq, Afshan, Falchi, Mario, Thurner, Matthias, Canouil, Mickaël, Pattou, Francois, Leclerc, Isabelle, Pullen, Timothy J, Cane, Matthew C, Prabhala, Priyanka, Greenwald, William, Schulte, Anke, Marchetti, Piero, Ibberson, Mark, MacDonald, Patrick E, Fox, Jocelyn E Manning, Gloyn, Anna L, Froguel, Philippe, Solimena, Michele, McCarthy, Mark I, and Rutter, Guy A

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Diabetes, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Adaptor Proteins, Signal Transducing, Alleles, Animals, Carrier Proteins, Cloning, Molecular, Diabetes Mellitus, Type 2, GTPase-Activating Proteins, Gene Expression Regulation, Genetic Variation, Homeostasis, Humans, Insulin, Insulin Secretion, Insulin-Secreting Cells, Liver, Mice, Phosphoproteins, Proinsulin, Quantitative Trait Loci, Transcriptome, ARAP1, GWAS, STARD10, diabetes, genetics, insulin, islet, mouse, secretion, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Genetic variants near ARAP1 (CENTD2) and STARD10 influence type 2 diabetes (T2D) risk. The risk alleles impair glucose-induced insulin secretion and, paradoxically but characteristically, are associated with decreased proinsulin:insulin ratios, indicating improved proinsulin conversion. Neither the identity of the causal variants nor the gene(s) through which risk is conferred have been firmly established. Whereas ARAP1 encodes a GTPase activating protein, STARD10 is a member of the steroidogenic acute regulatory protein (StAR)-related lipid transfer protein family. By integrating genetic fine-mapping and epigenomic annotation data and performing promoter-reporter and chromatin conformational capture (3C) studies in β cell lines, we localize the causal variant(s) at this locus to a 5 kb region that overlaps a stretch-enhancer active in islets. This region contains several highly correlated T2D-risk variants, including the rs140130268 indel. Expression QTL analysis of islet transcriptomes from three independent subject groups demonstrated that T2D-risk allele carriers displayed reduced levels of STARD10 mRNA, with no concomitant change in ARAP1 mRNA levels. Correspondingly, β-cell-selective deletion of StarD10 in mice led to impaired glucose-stimulated Ca2+ dynamics and insulin secretion and recapitulated the pattern of improved proinsulin processing observed at the human GWAS signal. Conversely, overexpression of StarD10 in the adult β cell improved glucose tolerance in high fat-fed animals. In contrast, manipulation of Arap1 in β cells had no impact on insulin secretion or proinsulin conversion in mice. This convergence of human and murine data provides compelling evidence that the T2D risk associated with variation at this locus is mediated through reduction in STARD10 expression in the β cell.

Published
2017

14. Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Author

Olinger, Eric, primary, Wilson, Ian J., additional, Orr, Sarah, additional, Barroso-Gil, Miguel, additional, Neatu, Ruxandra, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Elgar, Greg, additional, Fowler, Tom, additional, Giess, Adam, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Pereira, Mariana Buongermino, additional, Perez-Gil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, Atan, Denize, additional, and Sayer, John A., additional

Published
2024
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15. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

Author

Figueroa, Jonine D, Middlebrooks, Candace D, Banday, A Rouf, Ye, Yuanqing, Garcia-Closas, Montserrat, Chatterjee, Nilanjan, Koutros, Stella, Kiemeney, Lambertus A, Rafnar, Thorunn, Bishop, Timothy, Furberg, Helena, Matullo, Giuseppe, Golka, Klaus, Gago-Dominguez, Manuela, Taylor, Jack A, Fletcher, Tony, Siddiq, Afshan, Cortessis, Victoria K, Kooperberg, Charles, Cussenot, Olivier, Benhamou, Simone, Prescott, Jennifer, Porru, Stefano, Dinney, Colin P, Malats, Núria, Baris, Dalsu, Purdue, Mark P, Jacobs, Eric J, Albanes, Demetrius, Wang, Zhaoming, Chung, Charles C, Vermeulen, Sita H, Aben, Katja K, Galesloot, Tessel E, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Kari, Kiltie, Anne E, Harland, Mark, Teo, Mark, Offit, Kenneth, Vijai, Joseph, Bajorin, Dean, Kopp, Ryan, Fiorito, Giovanni, Guarrera, Simonetta, Sacerdote, Carlotta, Selinski, Silvia, Hengstler, Jan G, Gerullis, Holger, Ovsiannikov, Daniel, Blaszkewicz, Meinolf, Castelao, Jose Esteban, Calaza, Manuel, Martinez, Maria Elena, Cordeiro, Patricia, Xu, Zongli, Panduri, Vijayalakshmi, Kumar, Rajiv, Gurzau, Eugene, Koppova, Kvetoslava, Bueno-De-Mesquita, H Bas, Ljungberg, Börje, Clavel-Chapelon, Françoise, Weiderpass, Elisabete, Krogh, Vittorio, Dorronsoro, Miren, Travis, Ruth C, Tjønneland, Anne, Brennan, Paul, Chang-Claude, Jenny, Riboli, Elio, Conti, David, Stern, Marianna C, Pike, Malcolm C, Van Den Berg, David, Yuan, Jian-Min, Hohensee, Chancellor, Jeppson, Rebecca P, Cancel-Tassin, Geraldine, Roupret, Morgan, Comperat, Eva, Turman, Constance, De Vivo, Immaculata, Giovannucci, Edward, Hunter, David J, Kraft, Peter, Lindstrom, Sara, Carta, Angela, Pavanello, Sofia, Arici, Cecilia, Mastrangelo, Giuseppe, Kamat, Ashish M, Zhang, Liren, Gong, Yilei, Pu, Xia, Hutchinson, Amy, Burdett, Laurie, Wheeler, William A, and Karagas, Margaret R

Subjects
Cancer, Prevention, Human Genome, Genetics, Biotechnology, Urologic Diseases, Aetiology, 2.1 Biological and endogenous factors, Biomarkers, Tumor, Case-Control Studies, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 20, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, Polymorphism, Single Nucleotide, Risk Factors, Urinary Bladder Neoplasms, White People, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 × 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 × 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P ≤ 0.02 for both rs62185668 and rs6108803). Functional analyses are needed to explore the biological mechanisms underlying these novel genetic associations with risk for bladder cancer.

Published
2016

16. Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions

Author

Han, Ying, Hazelett, Dennis J, Wiklund, Fredrik, Schumacher, Fredrick R, Stram, Daniel O, Berndt, Sonja I, Wang, Zhaoming, Rand, Kristin A, Hoover, Robert N, Machiela, Mitchell J, Yeager, Merideth, Burdette, Laurie, Chung, Charles C, Hutchinson, Amy, Yu, Kai, Xu, Jianfeng, Travis, Ruth C, Key, Timothy J, Siddiq, Afshan, Canzian, Federico, Takahashi, Atsushi, Kubo, Michiaki, Stanford, Janet L, Kolb, Suzanne, Gapstur, Susan M, Diver, W Ryan, Stevens, Victoria L, Strom, Sara S, Pettaway, Curtis A, Olama, Ali Amin Al, Kote-Jarai, Zsofia, Eeles, Rosalind A, Yeboah, Edward D, Tettey, Yao, Biritwum, Richard B, Adjei, Andrew A, Tay, Evelyn, Truelove, Ann, Niwa, Shelley, Chokkalingam, Anand P, Isaacs, William B, Chen, Constance, Lindstrom, Sara, Le Marchand, Loic, Giovannucci, Edward L, Pomerantz, Mark, Long, Henry, Li, Fugen, Ma, Jing, Stampfer, Meir, John, Esther M, Ingles, Sue A, Kittles, Rick A, Murphy, Adam B, Blot, William J, Signorello, Lisa B, Zheng, Wei, Albanes, Demetrius, Virtamo, Jarmo, Weinstein, Stephanie, Nemesure, Barbara, Carpten, John, Leske, M Cristina, Wu, Suh-Yuh, Hennis, Anselm JM, Rybicki, Benjamin A, Neslund-Dudas, Christine, Hsing, Ann W, Chu, Lisa, Goodman, Phyllis J, Klein, Eric A, Zheng, S Lilly, Witte, John S, Casey, Graham, Riboli, Elio, Li, Qiyuan, Freedman, Matthew L, Hunter, David J, Gronberg, Henrik, Cook, Michael B, Nakagawa, Hidewaki, Kraft, Peter, Chanock, Stephen J, Easton, Douglas F, Henderson, Brian E, Coetzee, Gerhard A, Conti, David V, and Haiman, Christopher A

Subjects
Cancer, Human Genome, Biotechnology, Genetics, Urologic Diseases, Prostate Cancer, 2.1 Biological and endogenous factors, Aetiology, Asian People, Black People, Chromosome Mapping, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Hispanic or Latino, Humans, Linkage Disequilibrium, Male, Molecular Sequence Annotation, Polymorphism, Single Nucleotide, Prostatic Neoplasms, Quantitative Trait Loci, White People, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Interpretation of biological mechanisms underlying genetic risk associations for prostate cancer is complicated by the relatively large number of risk variants (n = 100) and the thousands of surrogate SNPs in linkage disequilibrium. Here, we combined three distinct approaches: multiethnic fine-mapping, putative functional annotation (based upon epigenetic data and genome-encoded features), and expression quantitative trait loci (eQTL) analyses, in an attempt to reduce this complexity. We examined 67 risk regions using genotyping and imputation-based fine-mapping in populations of European (cases/controls: 8600/6946), African (cases/controls: 5327/5136), Japanese (cases/controls: 2563/4391) and Latino (cases/controls: 1034/1046) ancestry. Markers at 55 regions passed a region-specific significance threshold (P-value cutoff range: 3.9 × 10(-4)-5.6 × 10(-3)) and in 30 regions we identified markers that were more significantly associated with risk than the previously reported variants in the multiethnic sample. Novel secondary signals (P < 5.0 × 10(-6)) were also detected in two regions (rs13062436/3q21 and rs17181170/3p12). Among 666 variants in the 55 regions with P-values within one order of magnitude of the most-associated marker, 193 variants (29%) in 48 regions overlapped with epigenetic or other putative functional marks. In 11 of the 55 regions, cis-eQTLs were detected with nearby genes. For 12 of the 55 regions (22%), the most significant region-specific, prostate-cancer associated variant represented the strongest candidate functional variant based on our annotations; the number of regions increased to 20 (36%) and 27 (49%) when examining the 2 and 3 most significantly associated variants in each region, respectively. These results have prioritized subsets of candidate variants for downstream functional evaluation.

Published
2015

17. Two susceptibility loci identified for prostate cancer aggressiveness.

Author

Berndt, Sonja I, Wang, Zhaoming, Yeager, Meredith, Alavanja, Michael C, Albanes, Demetrius, Amundadottir, Laufey, Andriole, Gerald, Beane Freeman, Laura, Campa, Daniele, Cancel-Tassin, Geraldine, Canzian, Federico, Cornu, Jean-Nicolas, Cussenot, Olivier, Diver, W Ryan, Gapstur, Susan M, Grönberg, Henrik, Haiman, Christopher A, Henderson, Brian, Hutchinson, Amy, Hunter, David J, Key, Timothy J, Kolb, Suzanne, Koutros, Stella, Kraft, Peter, Le Marchand, Loic, Lindström, Sara, Machiela, Mitchell J, Ostrander, Elaine A, Riboli, Elio, Schumacher, Fred, Siddiq, Afshan, Stanford, Janet L, Stevens, Victoria L, Travis, Ruth C, Tsilidis, Konstantinos K, Virtamo, Jarmo, Weinstein, Stephanie, Wilkund, Fredrik, Xu, Jianfeng, Lilly Zheng, S, Yu, Kai, Wheeler, William, Zhang, Han, African Ancestry Prostate Cancer GWAS Consortium, Sampson, Joshua, Black, Amanda, Jacobs, Kevin, Hoover, Robert N, Tucker, Margaret, and Chanock, Stephen J

Subjects
African Ancestry Prostate Cancer GWAS Consortium, Humans, Prostatic Neoplasms, Neoplasm Invasiveness, Genetic Predisposition to Disease, Case-Control Studies, Male, Genetic Loci, Neoplasm Grading
Abstract

Most men diagnosed with prostate cancer will experience indolent disease; hence, discovering genetic variants that distinguish aggressive from nonaggressive prostate cancer is of critical clinical importance for disease prevention and treatment. In a multistage, case-only genome-wide association study of 12,518 prostate cancer cases, we identify two loci associated with Gleason score, a pathological measure of disease aggressiveness: rs35148638 at 5q14.3 (RASA1, P=6.49 × 10(-9)) and rs78943174 at 3q26.31 (NAALADL2, P=4.18 × 10(-8)). In a stratified case-control analysis, the SNP at 5q14.3 appears specific for aggressive prostate cancer (P=8.85 × 10(-5)) with no association for nonaggressive prostate cancer compared with controls (P=0.57). The proximity of these loci to genes involved in vascular disease suggests potential biological mechanisms worthy of further investigation.

Published
2015

18. Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes

Author

Khamis, Amna, Canouil, Mickaël, Siddiq, Afshan, Crouch, Hutokshi, Falchi, Mario, Bulow, Manon von, Ehehalt, Florian, Marselli, Lorella, Distler, Marius, Richter, Daniela, Weitz, Jürgen, Bokvist, Krister, Xenarios, Ioannis, Thorens, Bernard, Schulte, Anke M., Ibberson, Mark, Bonnefond, Amelie, Marchetti, Piero, Solimena, Michele, and Froguel, Philippe

Published
2019
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19. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Author

Claus, Laura R., primary, Chen, Chuan, additional, Stallworth, Jennifer, additional, Turner, Joshua L., additional, Slaats, Gisela G., additional, Hawks, Alexandra L., additional, Mabillard, Holly, additional, Senum, Sarah R., additional, Srikanth, Sujata, additional, Flanagan-Steet, Heather, additional, Louie, Raymond J., additional, Silver, Josh, additional, Lerner-Ellis, Jordan, additional, Morel, Chantal, additional, Mighton, Chloe, additional, Sleutels, Frank, additional, van Slegtenhorst, Marjon, additional, van Ham, Tjakko, additional, Brooks, Alice S., additional, Dorresteijn, Eiske M., additional, Barakat, Tahsin Stefan, additional, Dahan, Karin, additional, Demoulin, Nathalie, additional, Goffin, Eric Jean, additional, Olinger, Eric, additional, Larsen, Martin, additional, Hertz, Jens Michael, additional, Lilien, Marc R., additional, Obeidová, Lena, additional, Seeman, Tomas, additional, Stone, Hillarey K., additional, Kerecuk, Larissa, additional, Gurgu, Mihai, additional, Yousef Yengej, Fjodor A., additional, Ammerlaan, Carola M.E., additional, Rookmaaker, Maarten B., additional, Hanna, Christian, additional, Rogers, R. Curtis, additional, Duran, Karen, additional, Peters, Edith, additional, Sayer, John A., additional, van Haaften, Gijs, additional, Harris, Peter C., additional, Ling, Kun, additional, Mason, Jennifer M., additional, van Eerde, Albertien M., additional, Steet, Richard, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Elgar, Greg, additional, Fowler, Tom, additional, Giess, Adam, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Pereira, Mariana Buongermino, additional, Perez-Gil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, and Wood, Suzanne M., additional

Published
2023
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20. Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Author

Sadeghi-Alavijeh, Omid, primary, Chan, Melanie M.Y., additional, Moochhala, Shabbir H., additional, Howles, Sarah, additional, Gale, Daniel P., additional, Böckenhauer, Detlef, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Elgar, Greg, additional, Fowler, Tom, additional, Giess, Adam, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Pereira, Mariana Buongermino, additional, PerezGil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, and Wood, Suzanne M., additional

Published
2023
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21. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Author

Siddiq, Afshan, Couch, Fergus J, Chen, Gary K, Lindström, Sara, Eccles, Diana, Millikan, Robert C, Michailidou, Kyriaki, Stram, Daniel O, Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B, Aittomäki, Kristiina, Amiano, Pilar, Apicella, Carmel, Investigators, Australian Breast Cancer Tissue Bank, Baglietto, Laura, Bandera, Elisa V, Beckmann, Matthias W, Berg, Christine D, Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M, Buring, Julie E, Buys, Saundra S, Campa, Daniele, Carpenter, Jane E, Chasman, Daniel I, Chang-Claude, Jenny, Chen, Constance, Clavel-Chapelon, Françoise, Cox, Angela, Cross, Simon S, Czene, Kamila, Deming, Sandra L, Diasio, Robert B, Diver, W Ryan, Dunning, Alison M, Durcan, Lorraine, Ekici, Arif B, Fasching, Peter A, Study, Familial Breast Cancer, Feigelson, Heather Spencer, Fejerman, Laura, Figueroa, Jonine D, Fletcher, Olivia, Flesch-Janys, Dieter, Gaudet, Mia M, Consortium, The GENICA, Gerty, Susan M, Rodriguez-Gil, Jorge L, Giles, Graham G, van Gils, Carla H, Godwin, Andrew K, Graham, Nikki, Greco, Dario, Hall, Per, Hankinson, Susan E, Hartmann, Arndt, Hein, Rebecca, Heinz, Judith, Hoover, Robert N, Hopper, John L, Hu, Jennifer J, Huntsman, Scott, Ingles, Sue A, Irwanto, Astrid, Isaacs, Claudine, Jacobs, Kevin B, John, Esther M, Justenhoven, Christina, Kaaks, Rudolf, Kolonel, Laurence N, Coetzee, Gerhard A, Lathrop, Mark, Le Marchand, Loic, Lee, Adam M, Lee, I-Min, Lesnick, Timothy, Lichtner, Peter, Liu, Jianjun, Lund, Eiliv, Makalic, Enes, Martin, Nicholas G, McLean, Catriona A, Meijers-Heijboer, Hanne, Meindl, Alfons, Miron, Penelope, Monroe, Kristine R, Montgomery, Grant W, Müller-Myhsok, Bertram, Nickels, Stefan, Nyante, Sarah J, Olswold, Curtis, Overvad, Kim, Palli, Domenico, Park, Daniel J, Palmer, Julie R, and Pathak, Harsh

Subjects
Biological Sciences, Genetics, Clinical Research, Aging, Human Genome, Breast Cancer, Cancer, Aetiology, 2.1 Biological and endogenous factors, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Receptors, Estrogen, Australian Breast Cancer Tissue Bank Investigators, Familial Breast Cancer Study, GENICA Consortium, Medical and Health Sciences, Genetics & Heredity
Abstract

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

Published
2012

24. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Vetro, Annalisa, primary, Pelorosso, Cristiana, additional, Balestrini, Simona, additional, Masi, Alessio, additional, Hambleton, Sophie, additional, Argilli, Emanuela, additional, Conti, Valerio, additional, Giubbolini, Simone, additional, Barrick, Rebekah, additional, Bergant, Gaber, additional, Writzl, Karin, additional, Bijlsma, Emilia K., additional, Brunet, Theresa, additional, Cacheiro, Pilar, additional, Mei, Davide, additional, Devlin, Anita, additional, Hoffer, Mariëtte J.V., additional, Machol, Keren, additional, Mannaioni, Guido, additional, Sakamoto, Masamune, additional, Menezes, Manoj P., additional, Courtin, Thomas, additional, Sherr, Elliott, additional, Parra, Riccardo, additional, Richardson, Ruth, additional, Roscioli, Tony, additional, Scala, Marcello, additional, von Stülpnagel, Celina, additional, Smedley, Damian, additional, Torella, Annalaura, additional, Tohyama, Jun, additional, Koichihara, Reiko, additional, Hamada, Keisuke, additional, Ogata, Kazuhiro, additional, Suzuki, Takashi, additional, Sugie, Atsushi, additional, van der Smagt, Jasper J., additional, van Gassen, Koen, additional, Valence, Stephanie, additional, Vittery, Emma, additional, Malone, Stephen, additional, Kato, Mitsuhiro, additional, Matsumoto, Naomichi, additional, Ratto, Gian Michele, additional, Guerrini, Renzo, additional, Pochiero, Francesca, additional, Mari, Francesco, additional, Ramesh, Venkateswaran, additional, Capra, Valeria, additional, Mancardi, Margherita, additional, Keren, Boris, additional, Mignot, Cyiril, additional, Lulli, Matteo, additional, Parks, Kendall, additional, Griffin, Helen, additional, Brugger, Melanie, additional, Nigro, Vincenzo, additional, Hirata, Yuko, additional, Peterlin, Borut, additional, Maki, Ryuto, additional, Nitta, Yohei, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Brown, Matthew A., additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Giess, Adam, additional, Griffin, John N., additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Lakey, Anna, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Mitchell, Jonathan, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Perez-Gil, Daniel, additional, Pereira, Marina B., additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, and Zarowiecki, Magdalena, additional

Published
2023
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26. Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Author

Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Olinger, Eric, Wilson, Ian J., Orr, Sarah, Barroso-Gil, Miguel, Neatu, Ruxandra, Atan, Denize, and Sayer, John A.

Published
2024
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28. Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Author

Schumacher, Fredrick R., Al Olama, Ali Amin, Berndt, Sonja I., Benlloch, Sara, Ahmed, Mahbubl, Saunders, Edward J., Dadaev, Tokhir, Leongamornlert, Daniel, Anokian, Ezequiel, Cieza-Borrella, Clara, Goh, Chee, Brook, Mark N., Sheng, Xin, Fachal, Laura, Dennis, Joe, Tyrer, Jonathan, Muir, Kenneth, Lophatananon, Artitaya, Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Tangen, Catherine M., Goodman, Phyllis J., Thompson, Jr, Ian M., Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Clements, Judith, Horvath, Lisa, Tilley, Wayne, Risbridger, Gail P., Gronberg, Henrik, Aly, Markus, Nordström, Tobias, Pharoah, Paul, Pashayan, Nora, Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Albanes, Demetrius, Weinstein, Stephanie, Wolk, Alicja, Håkansson, Niclas, West, Catharine M. L., Dunning, Alison M., Burnet, Neil, Mucci, Lorelei A., Giovannucci, Edward, Andriole, Gerald L., Cussenot, Olivier, Cancel-Tassin, Géraldine, Koutros, Stella, Beane Freeman, Laura E., Sorensen, Karina Dalsgaard, Orntoft, Torben Falck, Borre, Michael, Maehle, Lovise, Grindedal, Eli Marie, Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Travis, Ruth C., Key, Tim J., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Ingles, Sue Ann, Stern, Mariana C., Rosenstein, Barry S., Kerns, Sarah L., Ostrer, Harry, Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Guo, Xin, Wang, Guomin, Sun, Zan, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., FitzGerald, Liesel M., Kibel, Adam S., Drake, Bettina F., Vega, Ana, Gómez-Caamaño, Antonio, Szulkin, Robert, Eklund, Martin, Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Penney, Kathryn L., Stampfer, Meir, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Stanford, Janet L., Cybulski, Cezary, Wokolorczyk, Dominika, Lubinski, Jan, Ostrander, Elaine A., Geybels, Milan S., Nordestgaard, Børge G., Nielsen, Sune F., Weischer, Maren, Bisbjerg, Rasmus, Røder, Martin Andreas, Iversen, Peter, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Maier, Christiane, Luedeke, Manuel, Schnoeller, Thomas, Kim, Jeri, Logothetis, Christopher J., John, Esther M., Teixeira, Manuel R., Paulo, Paula, Cardoso, Marta, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Lin, Daniel W., Newcomb, Lisa F., Lessel, Davor, Gamulin, Marija, Kulis, Tomislav, Kaneva, Radka, Usmani, Nawaid, Singhal, Sandeep, Slavov, Chavdar, Mitev, Vanio, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, Xu, Jianfeng, Khaw, Kay-Tee, Cannon-Albright, Lisa, Pandha, Hardev, Michael, Agnieszka, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., Lindstrom, Sara, Turman, Constance, Ma, Jing, Hunter, David J., Riboli, Elio, Siddiq, Afshan, Canzian, Federico, Kolonel, Laurence N., Le Marchand, Loic, Hoover, Robert N., Machiela, Mitchell J., Cui, Zuxi, Kraft, Peter, Amos, Christopher I., Conti, David V., Easton, Douglas F., Wiklund, Fredrik, Chanock, Stephen J., Henderson, Brian E., Kote-Jarai, Zsofia, Haiman, Christopher A., Eeles, Rosalind A., The Profile Study, Australian Prostate Cancer BioResource (APCB), The IMPACT Study, Canary PASS Investigators, Breast and Prostate Cancer Cohort Consortium (BPC3), The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Cancer of the Prostate in Sweden (CAPS), Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), and The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium

Published
2018
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31. Supplementary Figure Legend from Postmenopausal Serum Sex Steroids and Risk of Hormone Receptor–Positive and -Negative Breast Cancer: a Nested Case–Control Study

Author

James, Rebecca E., primary, Lukanova, Annekatrin, primary, Dossus, Laure, primary, Becker, Susen, primary, Rinaldi, Sabina, primary, Tjønneland, Anne, primary, Olsen, Anja, primary, Overvad, Kim, primary, Mesrine, Sylvie, primary, Engel, Pierre, primary, Clavel-Chapelon, Françoise, primary, Chang-Claude, Jenny, primary, Vrieling, Alina, primary, Boeing, Heiner, primary, Schütze, Madlen, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Trichopoulos, Dimitrios, primary, Palli, Domenico, primary, Krogh, Vittorio, primary, Panico, Salvatore, primary, Tumino, Rosario, primary, Sacerdote, Carlotta, primary, Rodríguez, Laudina, primary, Buckland, Genevieve, primary, Sánchez, Maria-José, primary, Amiano, Pilar, primary, Ardanaz, Eva, primary, Bueno-de-Mesquita, Bas, primary, Ros, Martine M., primary, van Gils, Carla H., primary, Peeters, Petra H., primary, Khaw, Kay-Tee, primary, Wareham, Nick, primary, Key, Timothy J., primary, Allen, Naomi E., primary, Romieu, Isabelle, primary, Siddiq, Afshan, primary, Cox, David, primary, Riboli, Elio, primary, and Kaaks, Rudolf, primary

Published
2023
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32. Data from Postmenopausal Serum Sex Steroids and Risk of Hormone Receptor–Positive and -Negative Breast Cancer: a Nested Case–Control Study

Author

James, Rebecca E., primary, Lukanova, Annekatrin, primary, Dossus, Laure, primary, Becker, Susen, primary, Rinaldi, Sabina, primary, Tjønneland, Anne, primary, Olsen, Anja, primary, Overvad, Kim, primary, Mesrine, Sylvie, primary, Engel, Pierre, primary, Clavel-Chapelon, Françoise, primary, Chang-Claude, Jenny, primary, Vrieling, Alina, primary, Boeing, Heiner, primary, Schütze, Madlen, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Trichopoulos, Dimitrios, primary, Palli, Domenico, primary, Krogh, Vittorio, primary, Panico, Salvatore, primary, Tumino, Rosario, primary, Sacerdote, Carlotta, primary, Rodríguez, Laudina, primary, Buckland, Genevieve, primary, Sánchez, Maria-José, primary, Amiano, Pilar, primary, Ardanaz, Eva, primary, Bueno-de-Mesquita, Bas, primary, Ros, Martine M., primary, van Gils, Carla H., primary, Peeters, Petra H., primary, Khaw, Kay-Tee, primary, Wareham, Nick, primary, Key, Timothy J., primary, Allen, Naomi E., primary, Romieu, Isabelle, primary, Siddiq, Afshan, primary, Cox, David, primary, Riboli, Elio, primary, and Kaaks, Rudolf, primary

Published
2023
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34. Supplementary Figure 1 from Postmenopausal Serum Sex Steroids and Risk of Hormone Receptor–Positive and -Negative Breast Cancer: a Nested Case–Control Study

Author

James, Rebecca E., primary, Lukanova, Annekatrin, primary, Dossus, Laure, primary, Becker, Susen, primary, Rinaldi, Sabina, primary, Tjønneland, Anne, primary, Olsen, Anja, primary, Overvad, Kim, primary, Mesrine, Sylvie, primary, Engel, Pierre, primary, Clavel-Chapelon, Françoise, primary, Chang-Claude, Jenny, primary, Vrieling, Alina, primary, Boeing, Heiner, primary, Schütze, Madlen, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Trichopoulos, Dimitrios, primary, Palli, Domenico, primary, Krogh, Vittorio, primary, Panico, Salvatore, primary, Tumino, Rosario, primary, Sacerdote, Carlotta, primary, Rodríguez, Laudina, primary, Buckland, Genevieve, primary, Sánchez, Maria-José, primary, Amiano, Pilar, primary, Ardanaz, Eva, primary, Bueno-de-Mesquita, Bas, primary, Ros, Martine M., primary, van Gils, Carla H., primary, Peeters, Petra H., primary, Khaw, Kay-Tee, primary, Wareham, Nick, primary, Key, Timothy J., primary, Allen, Naomi E., primary, Romieu, Isabelle, primary, Siddiq, Afshan, primary, Cox, David, primary, Riboli, Elio, primary, and Kaaks, Rudolf, primary

Published
2023
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42. Supplementary Table 3 from Refining the Prostate Cancer Genetic Association within the JAZF1 Gene on Chromosome 7p15.2

Author

Prokunina-Olsson, Ludmila, primary, Fu, Yi-Ping, primary, Tang, Wei, primary, Jacobs, Kevin B., primary, Hayes, Richard B., primary, Kraft, Peter, primary, Berndt, Sonja I., primary, Wacholder, Sholom, primary, Yu, Kai, primary, Hutchinson, Amy, primary, Spencer Feigelson, Heather, primary, Thun, Michael J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Virtamo, Jarmo, primary, Weinstein, Stephanie, primary, Schumacher, Fredrick R., primary, Cancel-Tassin, Geraldine, primary, Cussenot, Olivier, primary, Valeri, Antoine, primary, Andriole, Gerald L., primary, Crawford, E. David, primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, Kolonel, Laurence, primary, Le Marchand, Loic, primary, Siddiq, Afshan, primary, Riboli, Elio, primary, Travis, Ruth, primary, Kaaks, Rudolf, primary, Isaacs, William B., primary, Isaacs, Sarah D., primary, Grönberg, Henrik, primary, Wiklund, Fredrik, primary, Xu, Jianfeng, primary, Vatten, Lars J., primary, Hveem, Kristian, primary, Kumle, Merethe, primary, Tucker, Margaret, primary, Hoover, Robert N., primary, Fraumeni, Joseph F., primary, Hunter, David J., primary, Thomas, Gilles, primary, Chatterjee, Nilanjan, primary, Chanock, Stephen J., primary, and Yeager, Meredith, primary

Published
2023
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43. Supplementary Table 2 from Leukocyte Telomere Length in Relation to Pancreatic Cancer Risk: A Prospective Study

Author

Campa, Daniele, primary, Mergarten, Björn, primary, De Vivo, Immaculata, primary, Boutron-Ruault, Marie-Christine, primary, Racine, Antoine, primary, Severi, Gianluca, primary, Nieters, Alexandra, primary, Katzke, Verena A., primary, Trichopoulou, Antonia, primary, Yiannakouris, Nikos, primary, Trichopoulos, Dimitrios, primary, Boeing, Heiner, primary, Quirós, J. Ramón, primary, Duell, Eric J., primary, Molina-Montes, Esther, primary, Huerta, José María, primary, Ardanaz, Eva, primary, Dorronsoro, Miren, primary, Khaw, Kay-Tee, primary, Wareham, Nicholas, primary, Travis, Ruth C., primary, Palli, Domenico, primary, Pala, Valeria, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Panico, Salvatore, primary, Vineis, Paolo, primary, Riboli, Elio, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H.B., primary, Peeters, Petra H., primary, Nilsson, Peter M., primary, Sund, Malin, primary, Ye, Weimin, primary, Lund, Eiliv, primary, Jareid, Mie, primary, Weiderpass, Elisabete, primary, Duarte-Salles, Talita, primary, Kong, So Yeon, primary, Stepien, Magdalena, primary, Canzian, Federico, primary, and Kaaks, Rudolf, primary

Published
2023
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44. Supplementary Table 1 from Leukocyte Telomere Length in Relation to Pancreatic Cancer Risk: A Prospective Study

Author

Campa, Daniele, primary, Mergarten, Björn, primary, De Vivo, Immaculata, primary, Boutron-Ruault, Marie-Christine, primary, Racine, Antoine, primary, Severi, Gianluca, primary, Nieters, Alexandra, primary, Katzke, Verena A., primary, Trichopoulou, Antonia, primary, Yiannakouris, Nikos, primary, Trichopoulos, Dimitrios, primary, Boeing, Heiner, primary, Quirós, J. Ramón, primary, Duell, Eric J., primary, Molina-Montes, Esther, primary, Huerta, José María, primary, Ardanaz, Eva, primary, Dorronsoro, Miren, primary, Khaw, Kay-Tee, primary, Wareham, Nicholas, primary, Travis, Ruth C., primary, Palli, Domenico, primary, Pala, Valeria, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Panico, Salvatore, primary, Vineis, Paolo, primary, Riboli, Elio, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H.B., primary, Peeters, Petra H., primary, Nilsson, Peter M., primary, Sund, Malin, primary, Ye, Weimin, primary, Lund, Eiliv, primary, Jareid, Mie, primary, Weiderpass, Elisabete, primary, Duarte-Salles, Talita, primary, Kong, So Yeon, primary, Stepien, Magdalena, primary, Canzian, Federico, primary, and Kaaks, Rudolf, primary

Published
2023
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45. Supplementary Table 2A from Refining the Prostate Cancer Genetic Association within the JAZF1 Gene on Chromosome 7p15.2

Author

Prokunina-Olsson, Ludmila, primary, Fu, Yi-Ping, primary, Tang, Wei, primary, Jacobs, Kevin B., primary, Hayes, Richard B., primary, Kraft, Peter, primary, Berndt, Sonja I., primary, Wacholder, Sholom, primary, Yu, Kai, primary, Hutchinson, Amy, primary, Spencer Feigelson, Heather, primary, Thun, Michael J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Virtamo, Jarmo, primary, Weinstein, Stephanie, primary, Schumacher, Fredrick R., primary, Cancel-Tassin, Geraldine, primary, Cussenot, Olivier, primary, Valeri, Antoine, primary, Andriole, Gerald L., primary, Crawford, E. David, primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, Kolonel, Laurence, primary, Le Marchand, Loic, primary, Siddiq, Afshan, primary, Riboli, Elio, primary, Travis, Ruth, primary, Kaaks, Rudolf, primary, Isaacs, William B., primary, Isaacs, Sarah D., primary, Grönberg, Henrik, primary, Wiklund, Fredrik, primary, Xu, Jianfeng, primary, Vatten, Lars J., primary, Hveem, Kristian, primary, Kumle, Merethe, primary, Tucker, Margaret, primary, Hoover, Robert N., primary, Fraumeni, Joseph F., primary, Hunter, David J., primary, Thomas, Gilles, primary, Chatterjee, Nilanjan, primary, Chanock, Stephen J., primary, and Yeager, Meredith, primary

Published
2023
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46. Supplementary Table 1 from Refining the Prostate Cancer Genetic Association within the JAZF1 Gene on Chromosome 7p15.2

Author

Prokunina-Olsson, Ludmila, primary, Fu, Yi-Ping, primary, Tang, Wei, primary, Jacobs, Kevin B., primary, Hayes, Richard B., primary, Kraft, Peter, primary, Berndt, Sonja I., primary, Wacholder, Sholom, primary, Yu, Kai, primary, Hutchinson, Amy, primary, Spencer Feigelson, Heather, primary, Thun, Michael J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Virtamo, Jarmo, primary, Weinstein, Stephanie, primary, Schumacher, Fredrick R., primary, Cancel-Tassin, Geraldine, primary, Cussenot, Olivier, primary, Valeri, Antoine, primary, Andriole, Gerald L., primary, Crawford, E. David, primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, Kolonel, Laurence, primary, Le Marchand, Loic, primary, Siddiq, Afshan, primary, Riboli, Elio, primary, Travis, Ruth, primary, Kaaks, Rudolf, primary, Isaacs, William B., primary, Isaacs, Sarah D., primary, Grönberg, Henrik, primary, Wiklund, Fredrik, primary, Xu, Jianfeng, primary, Vatten, Lars J., primary, Hveem, Kristian, primary, Kumle, Merethe, primary, Tucker, Margaret, primary, Hoover, Robert N., primary, Fraumeni, Joseph F., primary, Hunter, David J., primary, Thomas, Gilles, primary, Chatterjee, Nilanjan, primary, Chanock, Stephen J., primary, and Yeager, Meredith, primary

Published
2023
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47. Supplementary Figure 1 from Leukocyte Telomere Length in Relation to Pancreatic Cancer Risk: A Prospective Study

Author

Campa, Daniele, primary, Mergarten, Björn, primary, De Vivo, Immaculata, primary, Boutron-Ruault, Marie-Christine, primary, Racine, Antoine, primary, Severi, Gianluca, primary, Nieters, Alexandra, primary, Katzke, Verena A., primary, Trichopoulou, Antonia, primary, Yiannakouris, Nikos, primary, Trichopoulos, Dimitrios, primary, Boeing, Heiner, primary, Quirós, J. Ramón, primary, Duell, Eric J., primary, Molina-Montes, Esther, primary, Huerta, José María, primary, Ardanaz, Eva, primary, Dorronsoro, Miren, primary, Khaw, Kay-Tee, primary, Wareham, Nicholas, primary, Travis, Ruth C., primary, Palli, Domenico, primary, Pala, Valeria, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Panico, Salvatore, primary, Vineis, Paolo, primary, Riboli, Elio, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H.B., primary, Peeters, Petra H., primary, Nilsson, Peter M., primary, Sund, Malin, primary, Ye, Weimin, primary, Lund, Eiliv, primary, Jareid, Mie, primary, Weiderpass, Elisabete, primary, Duarte-Salles, Talita, primary, Kong, So Yeon, primary, Stepien, Magdalena, primary, Canzian, Federico, primary, and Kaaks, Rudolf, primary

Published
2023
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48. Supplementary Table Legends from Refining the Prostate Cancer Genetic Association within the JAZF1 Gene on Chromosome 7p15.2

Author

Prokunina-Olsson, Ludmila, primary, Fu, Yi-Ping, primary, Tang, Wei, primary, Jacobs, Kevin B., primary, Hayes, Richard B., primary, Kraft, Peter, primary, Berndt, Sonja I., primary, Wacholder, Sholom, primary, Yu, Kai, primary, Hutchinson, Amy, primary, Spencer Feigelson, Heather, primary, Thun, Michael J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Virtamo, Jarmo, primary, Weinstein, Stephanie, primary, Schumacher, Fredrick R., primary, Cancel-Tassin, Geraldine, primary, Cussenot, Olivier, primary, Valeri, Antoine, primary, Andriole, Gerald L., primary, Crawford, E. David, primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, Kolonel, Laurence, primary, Le Marchand, Loic, primary, Siddiq, Afshan, primary, Riboli, Elio, primary, Travis, Ruth, primary, Kaaks, Rudolf, primary, Isaacs, William B., primary, Isaacs, Sarah D., primary, Grönberg, Henrik, primary, Wiklund, Fredrik, primary, Xu, Jianfeng, primary, Vatten, Lars J., primary, Hveem, Kristian, primary, Kumle, Merethe, primary, Tucker, Margaret, primary, Hoover, Robert N., primary, Fraumeni, Joseph F., primary, Hunter, David J., primary, Thomas, Gilles, primary, Chatterjee, Nilanjan, primary, Chanock, Stephen J., primary, and Yeager, Meredith, primary

Published
2023
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49. Data from Refining the Prostate Cancer Genetic Association within the JAZF1 Gene on Chromosome 7p15.2

Author

Prokunina-Olsson, Ludmila, primary, Fu, Yi-Ping, primary, Tang, Wei, primary, Jacobs, Kevin B., primary, Hayes, Richard B., primary, Kraft, Peter, primary, Berndt, Sonja I., primary, Wacholder, Sholom, primary, Yu, Kai, primary, Hutchinson, Amy, primary, Spencer Feigelson, Heather, primary, Thun, Michael J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Virtamo, Jarmo, primary, Weinstein, Stephanie, primary, Schumacher, Fredrick R., primary, Cancel-Tassin, Geraldine, primary, Cussenot, Olivier, primary, Valeri, Antoine, primary, Andriole, Gerald L., primary, Crawford, E. David, primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, Kolonel, Laurence, primary, Le Marchand, Loic, primary, Siddiq, Afshan, primary, Riboli, Elio, primary, Travis, Ruth, primary, Kaaks, Rudolf, primary, Isaacs, William B., primary, Isaacs, Sarah D., primary, Grönberg, Henrik, primary, Wiklund, Fredrik, primary, Xu, Jianfeng, primary, Vatten, Lars J., primary, Hveem, Kristian, primary, Kumle, Merethe, primary, Tucker, Margaret, primary, Hoover, Robert N., primary, Fraumeni, Joseph F., primary, Hunter, David J., primary, Thomas, Gilles, primary, Chatterjee, Nilanjan, primary, Chanock, Stephen J., primary, and Yeager, Meredith, primary

Published
2023
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50. Data from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, primary, Moore, Lee E., primary, Lenz, Petra, primary, Figueroa, Jonine D., primary, Tang, Wei, primary, Porter-Gill, Patricia, primary, Chatterjee, Nilanjan, primary, Scott-Johnson, Alexandra, primary, Garcia-Closas, Montserrat, primary, Muchmore, Brian, primary, Baris, Dalsu, primary, Paquin, Ashley, primary, Ylaya, Kris, primary, Schwenn, Molly, primary, Apolo, Andrea B., primary, Karagas, Margaret R., primary, Tarway, McAnthony, primary, Johnson, Alison, primary, Mumy, Adam, primary, Schned, Alan, primary, Guedez, Liliana, primary, Jones, Michael A., primary, Kida, Masatoshi, primary, Hosain, GM Monawar, primary, Malats, Nuria, primary, Kogevinas, Manolis, primary, Tardon, Adonina, primary, Serra, Consol, primary, Carrato, Alfredo, primary, Garcia-Closas, Reina, primary, Lloreta, Josep, primary, Wu, Xifeng, primary, Purdue, Mark, primary, Andriole, Gerald L., primary, Grubb, Robert L., primary, Black, Amanda, primary, Landi, Maria T., primary, Caporaso, Neil E., primary, Vineis, Paolo, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H. Bas, primary, Trichopoulos, Dimitrios, primary, Ljungberg, Börje, primary, Severi, Gianluca, primary, Weiderpass, Elisabete, primary, Krogh, Vittorio, primary, Dorronsoro, Miren, primary, Travis, Ruth C., primary, Tjønneland, Anne, primary, Brennan, Paul, primary, Chang-Claude, Jenny, primary, Riboli, Elio, primary, Prescott, Jennifer, primary, Chen, Constance, primary, De Vivo, Immaculata, primary, Govannucci, Edward, primary, Hunter, David, primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Gapstur, Susan M., primary, Jacobs, Eric J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Virtamo, Jarmo, primary, Kooperberg, Charles, primary, Hohensee, Chancellor, primary, Rodabough, Rebecca J., primary, Cortessis, Victoria K., primary, Conti, David V., primary, Gago-Dominguez, Manuela, primary, Stern, Mariana C., primary, Pike, Malcolm C., primary, Van Den Berg, David, primary, Yuan, Jian-Min, primary, Haiman, Christopher A., primary, Cussenot, Olivier, primary, Cancel-Tassin, Geraldine, primary, Roupret, Morgan, primary, Comperat, Eva, primary, Porru, Stefano, primary, Carta, Angela, primary, Pavanello, Sofia, primary, Arici, Cecilia, primary, Mastrangelo, Giuseppe, primary, Grossman, H. Barton, primary, Wang, Zhaoming, primary, Deng, Xiang, primary, Chung, Charles C., primary, Hutchinson, Amy, primary, Burdette, Laurie, primary, Wheeler, William, primary, Fraumeni, Joseph, primary, Chanock, Stephen J., primary, Hewitt, Stephen M., primary, Silverman, Debra T., primary, Rothman, Nathaniel, primary, and Prokunina-Olsson, Ludmila, primary

Published
2023
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