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1. Geographic variation of mutagenic exposures in kidney cancer genomes

Author

Senkin, Sergey, Moody, Sarah, Díaz-Gay, Marcos, Abedi-Ardekani, Behnoush, Cattiaux, Thomas, Ferreiro-Iglesias, Aida, Wang, Jingwei, Fitzgerald, Stephen, Kazachkova, Mariya, Vangara, Raviteja, Le, Anh Phuong, Bergstrom, Erik N., Khandekar, Azhar, Otlu, Burçak, Cheema, Saamin, Latimer, Calli, Thomas, Emily, Atkins, Joshua Ronald, Smith-Byrne, Karl, Cortez Cardoso Penha, Ricardo, Carreira, Christine, Chopard, Priscilia, Gaborieau, Valérie, Keski-Rahkonen, Pekka, Jones, David, Teague, Jon W., Ferlicot, Sophie, Asgari, Mojgan, Sangkhathat, Surasak, Attawettayanon, Worapat, Świątkowska, Beata, Jarmalaite, Sonata, Sabaliauskaite, Rasa, Shibata, Tatsuhiro, Fukagawa, Akihiko, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Bartlett, John M. S., Albert, Monique, Phouthavongsy, Larry, Ashton-Prolla, Patricia, Botton, Mariana R., Silva Neto, Brasil, Bezerra, Stephania Martins, Curado, Maria Paula, Zequi, Stênio de Cássio, Reis, Rui Manuel, Faria, Eliney Ferreira, de Menezes, Nei Soares, Ferrari, Renata Spagnoli, Banks, Rosamonde E., Vasudev, Naveen S., Zaridze, David, Mukeriya, Anush, Shangina, Oxana, Matveev, Vsevolod, Foretova, Lenka, Navratilova, Marie, Holcatova, Ivana, Hornakova, Anna, Janout, Vladimir, Purdue, Mark P., Rothman, Nathaniel, Chanock, Stephen J., Ueland, Per Magne, Johansson, Mattias, McKay, James, Scelo, Ghislaine, Chanudet, Estelle, Humphreys, Laura, de Carvalho, Ana Carolina, Perdomo, Sandra, Alexandrov, Ludmil B., Stratton, Michael R., and Brennan, Paul

Published
2024
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2. Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

Author

Purdue, Mark P., Dutta, Diptavo, Machiela, Mitchell J., Gorman, Bryan R., Winter, Timothy, Okuhara, Dayne, Cleland, Sara, Ferreiro-Iglesias, Aida, Scheet, Paul, Liu, Aoxing, Wu, Chao, Antwi, Samuel O., Larkin, James, Zequi, Stênio C., Sun, Maxine, Hikino, Keiko, Hajiran, Ali, Lawson, Keith A., Cárcano, Flavio, Blanchet, Odile, Shuch, Brian, Nepple, Kenneth G., Margue, Gaëlle, Sundi, Debasish, Diver, W. Ryan, Folgueira, Maria A. A. K., van Bokhoven, Adrie, Neffa, Florencia, Brown, Kevin M., Hofmann, Jonathan N., Rhee, Jongeun, Yeager, Meredith, Cole, Nathan R., Hicks, Belynda D., Manning, Michelle R., Hutchinson, Amy A., Rothman, Nathaniel, Huang, Wen-Yi, Linehan, W. Marston, Lori, Adriana, Ferragu, Matthieu, Zidane-Marinnes, Merzouka, Serrano, Sérgio V., Magnabosco, Wesley J., Vilas, Ana, Decia, Ricardo, Carusso, Florencia, Graham, Laura S., Anderson, Kyra, Bilen, Mehmet A., Arciero, Cletus, Pellegrin, Isabelle, Ricard, Solène, Scelo, Ghislaine, Banks, Rosamonde E., Vasudev, Naveen S., Soomro, Naeem, Stewart, Grant D., Adeyoju, Adebanji, Bromage, Stephen, Hrouda, David, Gibbons, Norma, Patel, Poulam, Sullivan, Mark, Protheroe, Andrew, Nugent, Francesca I., Fournier, Michelle J., Zhang, Xiaoyu, Martin, Lisa J., Komisarenko, Maria, Eisen, Timothy, Cunningham, Sonia A., Connolly, Denise C., Uzzo, Robert G., Zaridze, David, Mukeria, Anush, Holcatova, Ivana, Hornakova, Anna, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Gaborieau, Valérie, Abedi-Ardekani, Behnoush, McKay, James, Johansson, Mattias, Phouthavongsy, Larry, Hayman, Lindsay, Li, Jason, Lungu, Ilinca, Bezerra, Stephania M., Souza, Aline G., Sares, Claudia T. G., Reis, Rodolfo B., Gallucci, Fabio P., Cordeiro, Mauricio D., Pomerantz, Mark, Lee, Gwo-Shu M., Freedman, Matthew L., Jeong, Anhyo, Greenberg, Samantha E., Sanchez, Alejandro, Thompson, R. Houston, Sharma, Vidit, Thiel, David D., Ball, Colleen T., Abreu, Diego, Lam, Elaine T., Nahas, William C., Master, Viraj A., Patel, Alpa V., Bernhard, Jean-Christophe, Freedman, Neal D., Bigot, Pierre, Reis, Rui M., Colli, Leandro M., Finelli, Antonio, Manley, Brandon J., Terao, Chikashi, Choueiri, Toni K., Carraro, Dirce M., Houlston, Richard, Eckel-Passow, Jeanette E., Abbosh, Philip H., Ganna, Andrea, Brennan, Paul, Gu, Jian, and Chanock, Stephen J.

Published
2024
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3. Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma

Author

Purdue, Mark P., Dutta, Diptavo, Machiela, Mitchell J., Gorman, Bryan R., Winter, Timothy, Okuhara, Dayne, Cleland, Sara, Ferreiro-Iglesias, Aida, Scheet, Paul, Liu, Aoxing, Wu, Chao, Antwi, Samuel O., Larkin, James, Zequi, Stênio C., Sun, Maxine, Hikino, Keiko, Hajiran, Ali, Lawson, Keith A., Cárcano, Flavio, Blanchet, Odile, Shuch, Brian, Nepple, Kenneth G., Margue, Gaëlle, Sundi, Debasish, Diver, W. Ryan, Folgueira, Maria A.A.K., van Bokhoven, Adrie, Neffa, Florencia, Brown, Kevin M., Hofmann, Jonathan N., Rhee, Jongeun, Yeager, Meredith, Cole, Nathan R., Hicks, Belynda D., Manning, Michelle R., Hutchinson, Amy A., Rothman, Nathaniel, Huang, Wen-Yi, Linehan, W. Marston, Lori, Adriana, Ferragu, Matthieu, Zidane-Marinnes, Merzouka, Serrano, Sérgio, Magnabosco, Wesley J., BioBank Japan Project Consortium, Vilas, Ana, Decia, Ricardo, Carusso, Florencia, Graham, Laura S., Anderson, Kyra, Bilen, Mehmet A., Arciero, Cletus, Pellegrin, Isabelle, Ricard, Solène, FinnGen, Scelo, Ghislaine, Banks, Rosamonde E., Vasudev, Naveen S., Soomro, Naeem, Stewart, Grant D., Adeyoju, Adebanji, Bromage, Stephen, Hrouda, David, Gibbons, Norma, Patel, Poulam, Sullivan, Mark, Protheroe, Andrew, Nugent, Francesca I., Fournier, Michelle J., Zhang, Xiaoyu, Martin, Lisa J., Komisarenko, Maria, Eisen, Timothy, Cunningham, Sonia A., Connolly, Denise C., Uzzo, Robert G., Zaridze, David, Mukeria, Anush, Holcatova, Ivana, Hornakova, Anna, Foretova, Lenka, Janout, Vladimir, Mates, Dana, Jinga, Viorel, Rascu, Stefan, Mijuskovic, Mirjana, Savic, Slavisa, Milosavljevic, Sasa, Gaborieau, Valérie, Abedi-Ardekani, Behnoush, McKay, James, Johansson, Mattias, Phouthavongsy, Larry, Hayman, Lindsay, Li, Jason, Lungu, Ilinca, Bezerra, Stephania M., de Souza, Aline G., Sares, Claudia T.G., Reis, Rodolfo B., Gallucci, Fabio P., Cordeiro, Mauricio D., Pomerantz, Mark, Lee, Gwo-Shu M., Freedman, Matthew L., Jeong, Anhyo, Greenberg, Samantha E., Sanchez, Alejandro, Thompson, R. Houston, Sharma, Vidit, Thiel, David D., Ball, Colleen T., Abreu, Diego, Lam, Elaine T., Nahas, William C., Master, Viraj A., Patel, Alpa V., Bernhard, Jean-Christophe, Freedman, Neal D., Bigot, Pierre, Reis, Rui M., Colli, Leandro M., Finelli, Antonio, Manley, Brandon J., Terao, Chikashi, Choueiri, Toni K., Carraro, Dirce M., Houlston, Richard, Eckel-Passow, Jeanette E., Abbosh, Philip H., Ganna, Andrea, Brennan, Paul, Gu, Jian, Chanock, Stephen J., Guo, Xinyu, Winter, Timothy D., Jahagirdar, Om, Ha, Eunji, and Susztak, Katalin

Published
2024
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4. The Mutographs biorepository: A unique genomic resource to study cancer around the world

Author

Perdomo, Sandra, Abedi-Ardekani, Behnoush, de Carvalho, Ana Carolina, Ferreiro-Iglesias, Aida, Gaborieau, Valérie, Cattiaux, Thomas, Renard, Hélène, Chopard, Priscilia, Carreira, Christine, Spanu, Andreea, Nikmanesh, Arash, Cardoso Penha, Ricardo Cortez, Antwi, Samuel O., Ashton-Prolla, Patricia, Canova, Cristina, Chitapanarux, Taned, Cox, Riley, Curado, Maria Paula, de Oliveira, José Carlos, Dzamalala, Charles, Fabianova, Elenora, Ferri, Lorenzo, Fitzgerald, Rebecca, Foretova, Lenka, Gallinger, Steven, Goldstein, Alisa M., Holcatova, Ivana, Huertas, Antonio, Janout, Vladimir, Jarmalaite, Sonata, Kaneva, Radka, Kowalski, Luiz Paulo, Kulis, Tomislav, Lagiou, Pagona, Lissowska, Jolanta, Malekzadeh, Reza, Mates, Dana, McCorrmack, Valerie, Menya, Diana, Mhatre, Sharayu, Mmbaga, Blandina Theophil, de Moricz, André, Nyirády, Péter, Ognjanovic, Miodrag, Papadopoulou, Kyriaki, Polesel, Jerry, Purdue, Mark P., Rascu, Stefan, Rebolho Batista, Lidia Maria, Reis, Rui Manuel, Ribeiro Pinto, Luis Felipe, Rodríguez-Urrego, Paula A., Sangkhathat, Surasak, Sangrajrang, Suleeporn, Shibata, Tatsuhiro, Stakhovsky, Eduard, Świątkowska, Beata, Vaccaro, Carlos, Vasconcelos de Podesta, Jose Roberto, Vasudev, Naveen S., Vilensky, Marta, Yeung, Jonathan, Zaridze, David, Zendehdel, Kazem, Scelo, Ghislaine, Chanudet, Estelle, Wang, Jingwei, Fitzgerald, Stephen, Latimer, Calli, Moody, Sarah, Humphreys, Laura, Alexandrov, Ludmil B., Stratton, Michael R., and Brennan, Paul

Published
2024
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5. The Potential Impact of Large Language Models on Doctor–Patient Communication: A Case Study in Prostate Cancer.

Author

Geantă, Marius, Bădescu, Daniel, Chirca, Narcis, Nechita, Ovidiu Cătălin, Radu, Cosmin George, Rascu, Stefan, Rădăvoi, Daniel, Sima, Cristian, Toma, Cristian, and Jinga, Viorel

Subjects
HEALTH literacy, ARTIFICIAL intelligence, HEALTH, PROSTATE tumors, NATURAL language processing, INFORMATION resources, DESCRIPTIVE statistics, MULTIVARIATE analysis, PHYSICIAN-patient relations, COMMUNICATION, MATHEMATICAL models, ANALYSIS of variance, THEORY, SENSITIVITY & specificity (Statistics), ACCESS to information, INTEGRATED health care delivery
Abstract

Background: In recent years, the integration of large language models (LLMs) into healthcare has emerged as a revolutionary approach to enhancing doctor–patient communication, particularly in the management of diseases such as prostate cancer. Methods: Our paper evaluated the effectiveness of three prominent LLMs—ChatGPT (3.5), Gemini (Pro), and Co-Pilot (the free version)—against the official Romanian Patient's Guide on prostate cancer. Employing a randomized and blinded method, our study engaged eight medical professionals to assess the responses of these models based on accuracy, timeliness, comprehensiveness, and user-friendliness. Results: The primary objective was to explore whether LLMs, when operating in Romanian, offer comparable or superior performance to the Patient's Guide, considering their potential to personalize communication and enhance the informational accessibility for patients. Results indicated that LLMs, particularly ChatGPT, generally provided more accurate and user-friendly information compared to the Guide. Conclusions: The findings suggest a significant potential for LLMs to enhance healthcare communication by providing accurate and accessible information. However, variability in performance across different models underscores the need for tailored implementation strategies. We highlight the importance of integrating LLMs with a nuanced understanding of their capabilities and limitations to optimize their use in clinical settings. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Sex specific associations in genome wide association analysis of renal cell carcinoma

Author

Laskar, Ruhina S., Muller, David C., Li, Peng, Machiela, Mitchell J., Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N., Colli, Leandro, Sampson, Joshua N., Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G., Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Borje, Sitaram, Raviprakash T., Giles, Graham G., Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C., Wolk, Alicja, Banks, Rosamonde E., Selby, Peter J., Easton, Douglas F., Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E., Edwards, Todd L., Lipworth, Loren, Carol, Hallie, Freedman, Matthew L., Pomerantz, Mark M., Cho, Eunyoung, Kraft, Peter, Preston, Mark A., Wilson, Kathryn M., Michael Gaziano, J., Sesso, Howard D., Black, Amanda, Freedman, Neal D., Huang, Wen-Yi, Anema, John G., Kahnoski, Richard J., Lane, Brian R., Noyes, Sabrina L., Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L., Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E., Choueiri, Toni K., Wood, Christopher, Johansson, Mattias, McKay, James D., Brown, Kevin M., Rothman, Nathaniel, Lathrop, Mark G., Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen J., Purdue, Mark P., and Scelo, Ghislaine

Published
2019
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7. Profile of common prostate cancer risk variants in an unscreened Romanian population

Author

Iordache, Paul D., Mates, Dana, Gunnarsson, Bjarni, Eggertsson, Hannes P., Sulem, Patrick, Guðmundsson, Júlíus, Benónísdóttir, Stefania, Csiki, Irma Eva, Rascu, Stefan, Radavoi, Daniel, Ursu, Radu, Staicu, Catalin, Calota, Violeta, Voinoiu, Angelica, Jinga, Mariana, Rosoga, Gabriel, Danau, Razvan, Sima, Sorin Cristian, Badescu, Daniel, Suciu, Nicoleta, Radoi, Viorica, Manolescu, Andrei, Rafnar, Thorunn, Halldórsson, Bjarni V., Jinga, Viorel, and Stefánsson, Kári

Published
2018
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8. Carbapenemase-producing uropathogens in real life: epidemiology and treatment at a County Emergency Hospital from Eastern Romania.

Author

Rusu, Aurel, Tiliscan, Catalin, Adamescu, Aida-Isabela, Ganea, Oana-Alexandra, Arama, Stefan Sorin, Rascu, Stefan Alexandru, and Jinga, Viorel

Subjects
HOSPITAL emergency services, URINARY catheters, EMERGENCY medical services, EPIDEMIOLOGY, URINARY tract infections, RETENTION of urine, KLEBSIELLA infections
Abstract

Urinary tract infections are a public health problem exacerbated by the rising concern of antibiotic resistance. Carbapenem-resistant Enterobacterales (CRE), mostly isolated from urine samples, represent an immediate public health threat, often associated with healthcare settings. This study investigated 27 cases of carbapenemase-producing organisms (CPO) detected in urinalysis over one year. There was a significant association between the presence of chronic indwelling urinary catheters and the temporary use of urinary catheters, with both groups accounting for 66.7% of all cases. We identified two modes of transmission for extended drug-resistant microorganisms: inter-hospital spread, covering wide geographical distances (involving four healthcare units across two other counties), and intra-hospital transmission (12 departments within our institution). Medium-size hospitals should thoroughly investigate their specific carbapenemase-producing strains. Their laboratories must be well-supplied to handle this situation and perform the necessary testing accurately. Treatment options should be available based on presumed susceptibility and antimicrobial susceptibility testing, with a range of antibiotics available, including novel agents such as Ceftazidime-avibactam, as well as established options like Aminoglycosides and Colistin. Adherence to rigorous catheter handling protocols, as emphasized by national and international guidelines, is essential and should be implemented consistently across all hospital departments. [ABSTRACT FROM AUTHOR]

Published
2023
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9. The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study

Author

Johansson, Mattias, Carreras-Torres, Robert, Scelo, Ghislaine, Purdue, Mark P., Mariosa, Daniela, Muller, David C., Timpson, Nicolas J., Haycock, Philip C., Brown, Kevin M., Wang, Zhaoming, Ye, Yuanqing, Hofmann, Jonathan N., Foll, Matthieu, Gaborieau, Valerie, Machiela, Mitchell J., Colli, Leandro M., Li, Peng, Garnier, Jean-Guillaume, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G., Yeager, Meredith, Radojevic-Skodric, Sanja, Ognjanovic, Simona, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Weiderpass, Elisabete, Ljungberg, Börje, Tumkur Sitaram, Raviprakash, Häggström, Christel, Bruinsma, Fiona, Jordan, Susan J., Severi, Gianluca, Winship, Ingrid, Hveem, Kristian, Vatten, Lars J., Fletcher, Tony, Larsson, Susanna C., Wolk, Alicja, Banks, Rosamonde E., Selby, Peter J., Easton, Douglas F., Andreotti, Gabriella, Beane Freeman, Laura E., Koutros, Stella, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E., Edwards, Todd L., Lipworth, Loren, Gapstur, Susan M., Stevens, Victoria L., Carol, Hallie, Freedman, Matthew L., Pomerantz, Mark M., Cho, Eunyoung, Wilson, Kathryn M., Gaziano, J. Michael, Sesso, Howard D., Freedman, Neal D., Parker, Alexander S., Eckel-Passow, Jeanette E., Huang, Wen-Yi, Kahnoski, Richard J., Lane, Brian R., Noyes, Sabrina L., Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L., Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E., Eisen, Timothy, Henrion, Marc, Larkin, James, Barman, Poulami, Leibovich, Bradley C., Choueiri, Toni K., Lathrop, G. Mark, Deleuze, Jean-Francois, Gunter, Marc, McKay, James D., Wu, Xifeng, Houlston, Richard S., Chanock, Stephen J., Relton, Caroline, Richards, J. Brent, Martin, Richard M., Davey Smith, George, and Brennan, Paul

Subjects
Obesity -- Genetic aspects -- Complications and side effects, Renal cell carcinoma -- Genetic aspects -- Development and progression -- Care and treatment, Genetic markers -- Health aspects, Etiology (Medicine), Genetics, Carcinoma, Cancer, Type 2 diabetes, Genomics, Insulin, Proxy, Lipids, Genomes, Fasting, Glucose, Biological sciences
Abstract

Background Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual factors directly influence risk. We addressed this question using genetic markers as proxies for putative risk factors and evaluated their relation to RCC risk in a mendelian randomization (MR) framework. This methodology limits bias due to confounding and is not affected by reverse causation. Methods and findings Genetic markers associated with obesity measures, blood pressure, lipids, type 2 diabetes, insulin, and glucose were initially identified as instrumental variables, and their association with RCC risk was subsequently evaluated in a genome-wide association study (GWAS) of 10,784 RCC patients and 20,406 control participants in a 2-sample MR framework. The effect on RCC risk was estimated by calculating odds ratios (OR.sub.SD) for a standard deviation (SD) increment in each risk factor. The MR analysis indicated that higher body mass index increases the risk of RCC (OR.sub.SD : 1.56, 95% confidence interval [CI] 1.44-1.70), with comparable results for waist-to-hip ratio (OR.sub.SD : 1.63, 95% CI 1.40-1.90) and body fat percentage (OR.sub.SD : 1.66, 95% CI 1.44-1.90). This analysis further indicated that higher fasting insulin (OR.sub.SD : 1.82, 95% CI 1.30-2.55) and diastolic blood pressure (DBP; OR.sub.SD : 1.28, 95% CI 1.11-1.47), but not systolic blood pressure (OR.sub.SD : 0.98, 95% CI 0.84-1.14), increase the risk for RCC. No association with RCC risk was seen for lipids, overall type 2 diabetes, or fasting glucose. Conclusions This study provides novel evidence for an etiological role of insulin in RCC, as well as confirmatory evidence that obesity and DBP influence RCC risk., Author(s): Mattias Johansson 1,*, Robert Carreras-Torres 1, Ghislaine Scelo 1, Mark P. Purdue 2, Daniela Mariosa 1, David C. Muller 3, Nicolas J. Timpson 4, Philip C. Haycock 4, Kevin [...]

Published
2019
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11. Sex specific associations in genome wide association analysis of renal cell carcinoma

Author

Laskar, Ruhina S, Muller, David C, Li, Peng, Machiela, Mitchell J, Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N, Colli, Leandro, Sampson, Joshua N, Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G, Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Börje, Tumkur Sitaram, Raviprakash, Giles, Graham G, Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Michael Gaziano, J, Sesso, Howard D, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E, Choueiri, Toni K, Wood, Christopher, Johansson, Mattias, McKay, James D, Brown, Kevin M, Rothman, Nathaniel, Lathrop, Mark G, Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen J, Purdue, Mark P, Scelo, Ghislaine, Laskar, Ruhina S, Muller, David C, Li, Peng, Machiela, Mitchell J, Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N, Colli, Leandro, Sampson, Joshua N, Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G, Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Börje, Tumkur Sitaram, Raviprakash, Giles, Graham G, Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Michael Gaziano, J, Sesso, Howard D, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E, Choueiri, Toni K, Wood, Christopher, Johansson, Mattias, McKay, James D, Brown, Kevin M, Rothman, Nathaniel, Lathrop, Mark G, Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen J, Purdue, Mark P, and Scelo, Ghislaine

Abstract

Renal cell carcinoma (RCC) has an undisputed genetic component and a stable 2:1 male to female sex ratio in its incidence across populations, suggesting possible sexual dimorphism in its genetic susceptibility. We conducted the first sex-specific genome-wide association analysis of RCC for men (3227 cases, 4916 controls) and women (1992 cases, 3095 controls) of European ancestry from two RCC genome-wide scans and replicated the top findings using an additional series of men (2261 cases, 5852 controls) and women (1399 cases, 1575 controls) from two independent cohorts of European origin. Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). We also identified two additional suggestive male-specific loci at 6q24.3 (SAMD5, male odds ratio (ORmale) = 0.83 [95% CI = 0.78-0.89], Pmale = 1.71 × 10-8 compared with female odds ratio (ORfemale) = 0.98 [95% CI = 0.90-1.07], Pfemale = 0.68) and 12q23.3 (intergenic, ORmale = 0.75 [95% CI = 0.68-0.83], Pmale = 1.59 × 10-8 compared with ORfemale = 0.93 [95% CI = 0.82-1.06], Pfemale = 0.21) that attained genome-wide significance in the joint meta-analysis. Herein, we provide evidence of sex-specific associations in RCC genetic susceptibility and advocate the necessity of larger genetic and genomic studies to unravel the endogenous causes of sex bias in sexually dimorphic traits and diseases like RCC.

Published
2019
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12. The Triad Nocturia, Smoking and Obstructive Sleep APnea

Author

Trenchea, Mihaela, primary, Arghir, Ioan Anton, additional, Popescu, Gilda Georgeta, additional, Rascu, Stefan, additional, Bechir, Edwin Sever, additional, Tofolean, Doina Ecaterina, additional, Fildan, Ariadna Petronela, additional, Ion, Ileana, additional, and Dantes, Elena, additional

Published
2019
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13. Corrigendum re 'Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma' : [Eur Urol 2017;72:747-54

Author

Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H B As, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, Purdue, Mark P, Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H B As, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, and Purdue, Mark P

Published
2018
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14. Genome-wide association study identifies multiple risk loci for renal cell carcinoma

Author

Scelo, Ghislaine, Purdue, Mark P, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Eckel-Passow, Jeanette E, Ye, Yuanqing, Hofmann, Jonathan N, Choi, Jiyeon, Foll, Matthieu, Gaborieau, Valerie, Machiela, Mitchell J, Colli, Leandro M, Li, Peng, Sampson, Joshua N, Abedi-Ardekani, Behnoush, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Chabrier, Amelie, Durand, Geoffroy, Le Calvez-Kelm, Florence, Prokhortchouk, Egor, Robinot, Nivonirina, Skryabin, Konstantin G, Wozniak, Magdalena B, Yeager, Meredith, Basta-Jovanovic, Gordana, Dzamic, Zoran, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Baglietto, Laura, Boeing, Heiner, Khaw, Kay-Tee, Weiderpass, Elisabete, Ljungberg, Borje, Sitaram, Raviprakash T, Bruinsma, Fiona, Jordan, Susan J, Severi, Gianluca, Winship, Ingrid, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Michael Gaziano, J, Sesso, Howard D, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Henrion, Marc, Larkin, James, Barman, Poulami, Leibovich, Bradley C, Choueiri, Toni K, Mark Lathrop, G, Rothman, Nathaniel, Deleuze, Jean-Francois, McKay, James D, Parker, Alexander S, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, and Chanock, Stephen J

Abstract

Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10-10), 3p22.1 (rs67311347, P=2.5 × 10-8), 3q26.2 (rs10936602, P=8.8 × 10-9), 8p21.3 (rs2241261, P=5.8 × 10-9), 10q24.33-q25.1 (rs11813268, P=3.9 × 10-8), 11q22.3 (rs74911261, P=2.1 × 10-10) and 14q24.2 (rs4903064, P=2.2 × 10-24). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.

Published
2017

15. Identification of Lynch syndrome risk variants in the Romanian population

Author

Iordache, Paul D., primary, Mates, Dana, additional, Gunnarsson, Bjarni, additional, Eggertsson, Hannes P., additional, Sulem, Patrick, additional, Benonisdottir, Stefania, additional, Csiki, Irma Eva, additional, Rascu, Stefan, additional, Radavoi, Daniel, additional, Ursu, Radu, additional, Staicu, Catalin, additional, Calota, Violeta, additional, Voinoiu, Angelica, additional, Jinga, Mariana, additional, Rosoga, Gabriel, additional, Danau, Razvan, additional, Sima, Sorin Cristian, additional, Badescu, Daniel, additional, Suciu, Nicoleta, additional, Radoi, Viorica, additional, Mates, Ioan Nicolae, additional, Dobra, Mihai, additional, Nicolae, Camelia, additional, Kristjansdottir, Sigrun, additional, Jonasson, Jon G., additional, Manolescu, Andrei, additional, Arnadottir, Gudny, additional, Jensson, Brynjar, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, le Roux, Louise, additional, Johannsdottir, Hrefna, additional, Rafnar, Thorunn, additional, Halldorsson, Bjarni V., additional, Jinga, Viorel, additional, and Stefansson, Kari, additional

Published
2018
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16. Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

Author

Machiela, Mitchell J., primary, Hofmann, Jonathan N., additional, Carreras-Torres, Robert, additional, Brown, Kevin M., additional, Johansson, Mattias, additional, Wang, Zhaoming, additional, Foll, Matthieu, additional, Li, Peng, additional, Rothman, Nathaniel, additional, Savage, Sharon A., additional, Gaborieau, Valerie, additional, McKay, James D., additional, Ye, Yuanqing, additional, Henrion, Marc, additional, Bruinsma, Fiona, additional, Jordan, Susan, additional, Severi, Gianluca, additional, Hveem, Kristian, additional, Vatten, Lars J., additional, Fletcher, Tony, additional, Koppova, Kvetoslava, additional, Larsson, Susanna C., additional, Wolk, Alicja, additional, Banks, Rosamonde E., additional, Selby, Peter J., additional, Easton, Douglas F., additional, Pharoah, Paul, additional, Andreotti, Gabriella, additional, Freeman, Laura E. Beane, additional, Koutros, Stella, additional, Albanes, Demetrius, additional, Mannisto, Satu, additional, Weinstein, Stephanie, additional, Clark, Peter E., additional, Edwards, Todd E., additional, Lipworth, Loren, additional, Gapstur, Susan M., additional, Stevens, Victoria L., additional, Carol, Hallie, additional, Freedman, Matthew L., additional, Pomerantz, Mark M., additional, Cho, Eunyoung, additional, Kraft, Peter, additional, Preston, Mark A., additional, Wilson, Kathryn M., additional, Gaziano, J. Michael, additional, Sesso, Howard S., additional, Black, Amanda, additional, Freedman, Neal D., additional, Huang, Wen-Yi, additional, Anema, John G., additional, Kahnoski, Richard J., additional, Lane, Brian R., additional, Noyes, Sabrina L., additional, Petillo, David, additional, Colli, Leandro M., additional, Sampson, Joshua N., additional, Besse, Celine, additional, Blanche, Helene, additional, Boland, Anne, additional, Burdette, Laurie, additional, Prokhortchouk, Egor, additional, Skryabin, Konstantin G., additional, Yeager, Meredith, additional, Mijuskovic, Mirjana, additional, Ognjanovic, Miodrag, additional, Foretova, Lenka, additional, Holcatova, Ivana, additional, Janout, Vladimir, additional, Mates, Dana, additional, Mukeriya, Anush, additional, Rascu, Stefan, additional, Zaridze, David, additional, Bencko, Vladimir, additional, Cybulski, Cezary, additional, Fabianova, Eleonora, additional, Jinga, Viorel, additional, Lissowska, Jolanta, additional, Lubinski, Jan, additional, Navratilova, Marie, additional, Rudnai, Peter, additional, Szeszenia-Dabrowska, Neonila, additional, Benhamou, Simone, additional, Cancel-Tassin, Geraldine, additional, Cussenot, Olivier, additional, Bueno-de-Mesquita, H.B(as)., additional, Canzian, Federico, additional, Duell, Eric J., additional, Ljungberg, Börje, additional, Sitaram, Raviprakash T., additional, Peters, Ulrike, additional, White, Emily, additional, Anderson, Garnet L., additional, Johnson, Lisa, additional, Luo, Juhua, additional, Buring, Julie, additional, Lee, I-Min, additional, Chow, Wong-Ho, additional, Moore, Lee E., additional, Wood, Christopher, additional, Eisen, Timothy, additional, Larkin, James, additional, Choueiri, Toni K., additional, Lathrop, G. Mark, additional, Teh, Bin Tean, additional, Deleuze, Jean-Francois, additional, Wu, Xifeng, additional, Houlston, Richard S., additional, Brennan, Paul, additional, Chanock, Stephen J., additional, Scelo, Ghislaine, additional, and Purdue, Mark P., additional

Published
2018
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17. Profile of common prostate cancer risk variants in an unscreened Romanian population

Author

Iordache, Paul D., primary, Mates, Dana, additional, Gunnarsson, Bjarni, additional, Eggertsson, Hannes P., additional, Sulem, Patrick, additional, Guðmundsson, Júlíus, additional, Benónísdóttir, Stefania, additional, Csiki, Irma Eva, additional, Rascu, Stefan, additional, Radavoi, Daniel, additional, Ursu, Radu, additional, Staicu, Catalin, additional, Calota, Violeta, additional, Voinoiu, Angelica, additional, Jinga, Mariana, additional, Rosoga, Gabriel, additional, Danau, Razvan, additional, Sima, Sorin Cristian, additional, Badescu, Daniel, additional, Suciu, Nicoleta, additional, Radoi, Viorica, additional, Manolescu, Andrei, additional, Rafnar, Thorunn, additional, Halldórsson, Bjarni V., additional, Jinga, Viorel, additional, and Stefánsson, Kári, additional

Published
2017
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18. Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma

Author

Machiela, Mitchell J., primary, Hofmann, Jonathan N., additional, Carreras-Torres, Robert, additional, Brown, Kevin M., additional, Johansson, Mattias, additional, Wang, Zhaoming, additional, Foll, Matthieu, additional, Li, Peng, additional, Rothman, Nathaniel, additional, Savage, Sharon A., additional, Gaborieau, Valerie, additional, McKay, James D., additional, Ye, Yuanqing, additional, Henrion, Marc, additional, Bruinsma, Fiona, additional, Jordan, Susan, additional, Severi, Gianluca, additional, Hveem, Kristian, additional, Vatten, Lars J., additional, Fletcher, Tony, additional, Koppova, Kvetoslava, additional, Larsson, Susanna C., additional, Wolk, Alicja, additional, Banks, Rosamonde E., additional, Selby, Peter J., additional, Easton, Douglas F., additional, Pharoah, Paul, additional, Andreotti, Gabriella, additional, Freeman, Laura E. Beane, additional, Koutros, Stella, additional, Albanes, Demetrius, additional, Mannisto, Satu, additional, Weinstein, Stephanie, additional, Clark, Peter E., additional, Edwards, Todd E., additional, Lipworth, Loren, additional, Gapstur, Susan M., additional, Stevens, Victoria L., additional, Carol, Hallie, additional, Freedman, Matthew L., additional, Pomerantz, Mark M., additional, Cho, Eunyoung, additional, Kraft, Peter, additional, Preston, Mark A., additional, Wilson, Kathryn M., additional, Gaziano, J. Michael, additional, Sesso, Howard S., additional, Black, Amanda, additional, Freedman, Neal D., additional, Huang, Wen-Yi, additional, Anema, John G., additional, Kahnoski, Richard J., additional, Lane, Brian R., additional, Noyes, Sabrina L., additional, Petillo, David, additional, Colli, Leandro M., additional, Sampson, Joshua N., additional, Besse, Celine, additional, Blanche, Helene, additional, Boland, Anne, additional, Burdette, Laurie, additional, Prokhortchouk, Egor, additional, Skryabin, Konstantin G., additional, Yeager, Meredith, additional, Mijuskovic, Mirjana, additional, Ognjanovic, Miodrag, additional, Foretova, Lenka, additional, Holcatova, Ivana, additional, Janout, Vladimir, additional, Mates, Dana, additional, Mukeriya, Anush, additional, Rascu, Stefan, additional, Zaridze, David, additional, Bencko, Vladimir, additional, Cybulski, Cezary, additional, Fabianova, Eleonora, additional, Jinga, Viorel, additional, Lissowska, Jolanta, additional, Lubinski, Jan, additional, Navratilova, Marie, additional, Rudnai, Peter, additional, Szeszenia-Dabrowska, Neonila, additional, Benhamou, Simone, additional, Cancel-Tassin, Geraldine, additional, Cussenot, Olivier, additional, Bueno-de-Mesquita, H. Bas, additional, Canzian, Federico, additional, Duell, Eric J., additional, Ljungberg, Börje, additional, Sitaram, Raviprakash T., additional, Peters, Ulrike, additional, White, Emily, additional, Anderson, Garnet L., additional, Johnson, Lisa, additional, Luo, Juhua, additional, Buring, Julie, additional, Lee, I-Min, additional, Chow, Wong-Ho, additional, Moore, Lee E., additional, Wood, Christopher, additional, Eisen, Timothy, additional, Larkin, James, additional, Choueiri, Toni K., additional, Lathrop, G. Mark, additional, Teh, Bin Tean, additional, Deleuze, Jean-Francois, additional, Wu, Xifeng, additional, Houlston, Richard S., additional, Brennan, Paul, additional, Chanock, Stephen J., additional, Scelo, Ghislaine, additional, and Purdue, Mark P., additional

Published
2017
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19. Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma.

Author

Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H Bas, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, Purdue, Mark P, Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H Bas, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, and Purdue, Mark P

Abstract

BACKGROUND: Relative telomere length in peripheral blood leukocytes has been evaluated as a potential biomarker for renal cell carcinoma (RCC) risk in several studies, with conflicting findings. OBJECTIVE: We performed an analysis of genetic variants associated with leukocyte telomere length to assess the relationship between telomere length and RCC risk using Mendelian randomization, an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations. DESIGN, SETTING, AND PARTICIPANTS: Genotypes from nine telomere length-associated variants for 10 784 cases and 20 406 cancer-free controls from six genome-wide association studies (GWAS) of RCC were aggregated into a weighted genetic risk score (GRS) predictive of leukocyte telomere length. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Odds ratios (ORs) relating the GRS and RCC risk were computed in individual GWAS datasets and combined by meta-analysis. RESULTS AND LIMITATIONS: Longer genetically inferred telomere length was associated with an increased risk of RCC (OR=2.07 per predicted kilobase increase, 95% confidence interval [CI]:=1.70-2.53, p<0.0001). As a sensitivity analysis, we excluded two telomere length variants in linkage disequilibrium (R2>0.5) with GWAS-identified RCC risk variants (rs10936599 and rs9420907) from the telomere length GRS; despite this exclusion, a statistically significant association between the GRS and RCC risk persisted (OR=1.73, 95% CI=1.36-2.21, p<0.0001). Exploratory analyses for individual histologic subtypes suggested comparable associations with the telomere length GRS for clear cell (N=5573, OR=1.93, 95% CI=1.50-2.49, p<0.0001), papillary (N=573, OR=1.96, 95% CI=1.01-3.81, p=0.046), and chromophobe RCC (N=203, OR=2.37, 95% CI=0.78-7.17, p=0.13). CONCLUSIONS: Our investigation adds to the growing body of evidence indicating some aspect of longer telomere length is important for RCC risk. PATIENT SUMMARY

Published
2017
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20. MICROBIOLOGICAL PROFILE AND ANTIBIOTIC RESISTANCE PATTERN OF BACTERIAL UROPATHOGENS AMONG HOSPITALIZED PATIENTS.

Author

GOLLI, ANDREEA-LOREDANA, NIŢU, FLOAREA MIMI, BĂLĂŞOIU, MARIA, RASCU, STEFAN, LUNGU, MARINA ALINA, DINESCU, SORIN NICOLAE, CIOBANUMITRACHE, LAVINIA, GLODEANU, ADINA, VĂCARU, MIRELA, and OLTEANU, MIHAI

Subjects
URINARY tract infections, DRUG resistance in bacteria, HOSPITAL patients, DRUG resistance, ENTEROBACTER
Abstract

Copyright of Farmacia is the property of Societatea de Stiinte Farmaceutice Romania and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019
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22. Replication study of 34 common SNPs associated with prostate cancer in the Romanian population.

Author

Jinga, Viorel, Csiki, Irma Eva, Manolescu, Andrei, Iordache, Paul, Mates, Ioan Nicolae, Radavoi, Daniel, Rascu, Stefan, Badescu, Daniel, Badea, Paula, and Mates, Dana

Subjects
SINGLE nucleotide polymorphisms, PROSTATE cancer, HUMAN genetic variation, TUMOR grading, PHENOTYPES, PUBLIC health
Abstract

Prostate cancer is the third-most common form of cancer in men in Romania. The Romanian unscreened population represents a good sample to study common genetic risk variants. However, a comprehensive analysis has not been conducted yet. Here, we report our replication efforts in a Romanian population of 979 cases and 1027 controls, for potential association of 34 literature-reported single nucleotide polymorphisms ( SNPs) with prostate cancer. We also examined whether any SNP was differentially associated with tumour grade or stage at diagnosis, with disease aggressiveness, and with the levels of PSA (prostate specific antigen). In the allelic analysis, we replicated the previously reported risk for 19 loci on 4q24, 6q25.3, 7p15.2, 8q24.21, 10q11.23, 10q26.13, 11p15.5, 11q13.2, 11q13.3. Statistically significant associations were replicated for other six SNPs only with a particular disease phenotype: low-grade tumour and low PSA levels (rs1512268), high PSA levels (rs401681 and rs11649743), less aggressive cancers (rs1465618, rs721048, rs17021918). The strongest association of our tested SNP's with PSA in controls was for rs2735839, with 29% increase for each copy of the major allele G, consistent with previous results. Our results suggest that rs4962416, previously associated only with prostate cancer, is also associated with PSA levels, with 12% increase for each copy of the minor allele C. The study enabled the replication of the effect for the majority of previously reported genetic variants in a set of clinically relevant prostate cancers. This is the first replication study on these loci, known to associate with prostate cancer, in a Romanian population. [ABSTRACT FROM AUTHOR]

Published
2016
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23. The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study

Author

Johansson, Mattias, Carreras-Torres, Robert, Scelo, Ghislaine, Purdue, Mark P, Mariosa, Daniela, Muller, David C, Timpson, Nicolas J, Haycock, Philip C, Brown, Kevin M, Wang, Zhaoming, Ye, Yuanqing, Hofmann, Jonathan N, Foll, Matthieu, Gaborieau, Valerie, Machiela, Mitchell J, Colli, Leandro M, Li, Peng, Garnier, Jean-Guillaume, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Radojevic-Skodric, Sanja, Ognjanovic, Simona, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Weiderpass, Elisabete, Ljungberg, Börje, Tumkur Sitaram, Raviprakash, Häggström, Christel, Bruinsma, Fiona, Jordan, Susan J, Severi, Gianluca, Winship, Ingrid, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard D, Freedman, Neal D, Parker, Alexander S, Eckel-Passow, Jeanette E, Huang, Wen-Yi, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Eisen, Timothy, Henrion, Marc, Larkin, James, Barman, Poulami, Leibovich, Bradley C, Choueiri, Toni K, Lathrop, G Mark, Deleuze, Jean-Francois, Gunter, Marc, McKay, James D, Wu, Xifeng, Houlston, Richard S, Chanock, Stephen J, Relton, Caroline, Richards, J Brent, Martin, Richard M, Davey Smith, George, and Brennan, Paul

Subjects
2. Zero hunger, Blood Glucose, Genetic Markers, Male, Blood Pressure, Mendelian Randomization Analysis, urologic and male genital diseases, Lipids, Kidney Neoplasms, Body Mass Index, Diabetes Mellitus, Type 2, Risk Factors, Humans, Insulin, Female, Obesity, Carcinoma, Renal Cell, Genome-Wide Association Study
Abstract

BACKGROUND: Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual factors directly influence risk. We addressed this question using genetic markers as proxies for putative risk factors and evaluated their relation to RCC risk in a mendelian randomization (MR) framework. This methodology limits bias due to confounding and is not affected by reverse causation. METHODS AND FINDINGS: Genetic markers associated with obesity measures, blood pressure, lipids, type 2 diabetes, insulin, and glucose were initially identified as instrumental variables, and their association with RCC risk was subsequently evaluated in a genome-wide association study (GWAS) of 10,784 RCC patients and 20,406 control participants in a 2-sample MR framework. The effect on RCC risk was estimated by calculating odds ratios (ORSD) for a standard deviation (SD) increment in each risk factor. The MR analysis indicated that higher body mass index increases the risk of RCC (ORSD: 1.56, 95% confidence interval [CI] 1.44-1.70), with comparable results for waist-to-hip ratio (ORSD: 1.63, 95% CI 1.40-1.90) and body fat percentage (ORSD: 1.66, 95% CI 1.44-1.90). This analysis further indicated that higher fasting insulin (ORSD: 1.82, 95% CI 1.30-2.55) and diastolic blood pressure (DBP; ORSD: 1.28, 95% CI 1.11-1.47), but not systolic blood pressure (ORSD: 0.98, 95% CI 0.84-1.14), increase the risk for RCC. No association with RCC risk was seen for lipids, overall type 2 diabetes, or fasting glucose. CONCLUSIONS: This study provides novel evidence for an etiological role of insulin in RCC, as well as confirmatory evidence that obesity and DBP influence RCC risk.

24. Genome-Wide Association Scan for Variants Associated with Early-Onset Prostate Cancer in Romania.

Author

Radavoi, George Daniel, Iordache, Paul Daniel, Radoi, Viorica, Ursu, Radu Ioan, Rascu, Stefan, Sima, Cristian, Vargau, Marian, Cheorpeaca, Bogdan, and Mischianu, Dan

Subjects
*PROSTATE cancer, *PROSTATE diseases, *CHROMOSOMES
Abstract

Objectives: There is evidence that prostate cancer (PCa) has a genetic predisposition, multiple genome-wide associations studies evaluating the impact of common and rare markers in the etiology of PCa and early-onset PCa. In our study we performed a genome-wide association scan for early-onset prostate cancer in a cohort of genotyped hospital patients form Romania. Used methodology: The study consisted of 2024 hospital patients genotyped, 990 unrelated PCa cases histopathologically confirmed and with abnormal PSA levels, and 1034 controls consisting of patients admitted for urological and surgical conditions, excluding cancer. Conclusions: We found genome-wide significant evidence for variants on chromosomes 2 ,12 and 22. We also evaluated the association results for the whole-genome obtaining compelling evidence regarding the importance of common genetic variants to early-onset PCa in Romania. [ABSTRACT FROM AUTHOR]

Published
2018

25. Genome-Wide Association Scan for Variants Associated with Early-Onset Prostate Cancer in Romania.

Author

Radavoi, George Daniel, Iordache, Paul Daniel, Radoi, Viorica, Ursu, Radu Ioan, Rascu, Stefan, Sima, Cristian, Vargau, Marian, Cheorpeaca, Bogdan, and Mischianu, Dan

Subjects
*PROSTATE cancer & genetics, *GENETIC markers, *PROSTATE-specific antigen
Abstract

Objectives: There is evidence that prostate cancer (PCa) has a genetic predisposition, multiple genome-wide associations studies evaluating the impact of common and rare markers in the etiology of PCa and early-onset PCa. In our study we performed a genome-wide association scan for early-onset prostate cancer in a cohort of genotyped hospital patients form Romania. Used methodology: The study consisted of 2024 hospital patients genotyped, 990 unrelated PCa cases histopathologically confi rmed and with abnormal PSA levels, and 1034 controls consisting of patients admitted for urological and surgical conditions, excluding cancer. Conclusions: We found genome-wide signifi cant evidence for variants on chromosomes 2 ,12 and 22. We also evaluated the association results for the whole-genome obtaining compelling evidence regarding the importance of common genetic variants to early-onset PCa in Romania. [ABSTRACT FROM AUTHOR]

Published
2016

26. Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

Author

Scelo G, Purdue MP, Brown KM, Johansson M, Wang Z, Eckel-Passow JE, Ye Y, Hofmann JN, Choi J, Foll M, Gaborieau V, Machiela MJ, Colli LM, Li P, Sampson JN, Abedi-Ardekani B, Besse C, Blanche H, Boland A, Burdette L, Chabrier A, Durand G, Le Calvez-Kelm F, Prokhortchouk E, Robinot N, Skryabin KG, Wozniak MB, Yeager M, Basta-Jovanovic G, Dzamic Z, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Baglietto L, Boeing H, Khaw KT, Weiderpass E, Ljungberg B, Sitaram RT, Bruinsma F, Jordan SJ, Severi G, Winship I, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Männistö S, Weinstein S, Clark PE, Edwards TL, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Michael Gaziano J, Sesso HD, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Teh BT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Henrion M, Larkin J, Barman P, Leibovich BC, Choueiri TK, Mark Lathrop G, Rothman N, Deleuze JF, McKay JD, Parker AS, Wu X, Houlston RS, Brennan P, and Chanock SJ

Subjects
Adolescent, Adult, Aged, Female, Genetic Loci, Germ-Line Mutation, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, White People genetics, Young Adult, Carcinoma, Renal Cell genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Kidney Neoplasms genetics
Abstract

Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10 -10 ), 3p22.1 (rs67311347, P=2.5 × 10 -8 ), 3q26.2 (rs10936602, P=8.8 × 10 -9 ), 8p21.3 (rs2241261, P=5.8 × 10 -9 ), 10q24.33-q25.1 (rs11813268, P=3.9 × 10 -8 ), 11q22.3 (rs74911261, P=2.1 × 10 -10 ) and 14q24.2 (rs4903064, P=2.2 × 10 -24 ). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.

Published
2017
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