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265 Publications visible to you, out of a total of 265
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. …. METHODS We applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models. RESULTS Observed height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m2 increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (Pinteraction \textless 0.05). CONCLUSION Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population.

Authors: Frank Qian, Matti A. Rookus, Goska Leslie, Harvey A. Risch, Mark H. Greene, Cora M. Aalfs, Muriel A. Adank, Julian Adlard, Bjarni A. Agnarsson, Munaza Ahmed, Kristiina Aittomäki, Irene L. Andrulis, Norbert Arnold, Banu K. Arun, Margreet G. E. M. Ausems, Jacopo Azzollini, Daniel Barrowdale, Julian Barwell, Javier Benitez, Katarzyna Białkowska, Valérie Bonadona, Julika Borde, Ake Borg, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Ian Campbell, Jonathan Carter, Jocelyne Chiquette, Wendy K. Chung, Kathleen B. M. Claes, J. Margriet Collée, Marie-Agnès Collonge-Rame, Fergus J. Couch, Mary B. Daly, Capucine Delnatte, Orland Diez, Susan M. Domchek, Cecilia M. Dorfling, Jacqueline Eason, Douglas F. Easton, Ros Eeles, Christoph Engel, D. Gareth Evans, Laurence Faivre, Lidia Feliubadaló, Lenka Foretova, Eitan Friedman, Debra Frost, Patricia A. Ganz, Judy Garber, Vanesa Garcia-Barberan, Andrea Gehrig, Gord Glendon, Andrew K. Godwin, Encarna B. Gómez Garcia, Ute Hamann, Jan Hauke, John L. Hopper, Peter J. Hulick, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Anna Jakubowska, Ramunas Janavicius, Esther M. John, Beth Y. Karlan, Carolien M. Kets, Yael Laitman, Conxi Lázaro, Dominique Leroux, Jenny Lester, Fabienne Lesueur, Jennifer T. Loud, Jan Lubiński, Alicja Łukomska, Lesley McGuffog, Noura Mebirouk, Hanne E. J. Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Thea M. Mooij, Emmanuelle Mouret-Fourme, Katherine L. Nathanson, Bita Nehoray, Susan L. Neuhausen, Heli Nevanlinna, Finn C. Nielsen, Kenneth Offit, Edith Olah, Kai-Ren Ong, Jan C. Oosterwijk, Laura Ottini, Michael T. Parsons, Paolo Peterlongo, Georg Pfeiler, Nisha Pradhan, Paolo Radice, Susan J. Ramus, Johanna Rantala, Gad Rennert, Mark Robson, Gustavo C. Rodriguez, Ritu Salani, Maren T. Scheuner, Rita K. Schmutzler, Payal D. Shah, Lucy E. Side, Jacques Simard, Christian F. Singer, Doris Steinemann, Dominique Stoppa-Lyonnet, Yen Yen Tan, Manuel R. Teixeira, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Silvia Tognazzo, Amanda E. Toland, Nadine Tung, Christi J. van Asperen, Klaartje van Engelen, Elizabeth J. van Rensburg, Laurence Venat-Bouvet, Jeroen Vierstraete, Gabriel Wagner, Lisa Walker, Jeffrey N. Weitzel, Drakoulis Yannoukakos, Antonis C. Antoniou, David E. Goldgar, Olufunmilayo I. Olopade, Georgia Chenevix-Trench, Timothy R. Rebbeck, Dezheng Huo

Date Published: 1st Jul 2019

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Abstract (Expand)

Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for … rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m(2)/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m(2) at follow-up among those with eGFRcrea 60 mL/min/1.73m(2) or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or LARP4B. Individuals at high compared to those at low genetic risk (8-14 vs 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.

Authors: M. Gorski, B. Jung, Y. Li, P. R. Matias-Garcia, M. Wuttke, S. Coassin, C. H. L. Thio, M. E. Kleber, T. W. Winkler, V. Wanner, J. F. Chai, A. Y. Chu, M. Cocca, M. F. Feitosa, S. Ghasemi, A. Hoppmann, K. Horn, M. Li, T. Nutile, M. Scholz, K. B. Sieber, A. Teumer, A. Tin, J. Wang, B. O. Tayo, T. S. Ahluwalia, P. Almgren, S. J. L. Bakker, B. Banas, N. Bansal, M. L. Biggs, E. Boerwinkle, E. P. Bottinger, H. Brenner, R. J. Carroll, J. Chalmers, M. L. Chee, M. L. Chee, C. Y. Cheng, J. Coresh, M. H. de Borst, F. Degenhardt, K. U. Eckardt, K. Endlich, A. Franke, S. Freitag-Wolf, P. Gampawar, R. T. Gansevoort, M. Ghanbari, C. Gieger, P. Hamet, K. Ho, E. Hofer, B. Holleczek, V. H. Xian Foo, N. Hutri-Kahonen, S. J. Hwang, M. A. Ikram, N. S. Josyula, M. Kahonen, C. C. Khor, W. Koenig, H. Kramer, B. K. Kramer, B. Kuhnel, L. A. Lange, T. Lehtimaki, W. Lieb, R. J. F. Loos, M. A. Lukas, L. P. Lyytikainen, C. Meisinger, T. Meitinger, O. Melander, Y. Milaneschi, P. P. Mishra, N. Mononen, J. C. Mychaleckyj, G. N. Nadkarni, M. Nauck, K. Nikus, B. Ning, I. M. Nolte, M. L. O'Donoghue, M. Orho-Melander, S. A. Pendergrass, B. W. J. H. Penninx, M. H. Preuss, B. M. Psaty, L. M. Raffield, O. T. Raitakari, R. Rettig, M. Rheinberger, K. M. Rice, A. R. Rosenkranz, P. Rossing, J. I. Rotter, C. Sabanayagam, H. Schmidt, R. Schmidt, B. Schottker, C. A. Schulz, S. Sedaghat, C. M. Shaffer, K. Strauch, S. Szymczak, K. D. Taylor, J. Tremblay, L. Chaker, P. van der Harst, P. J. van der Most, N. Verweij, U. Volker, M. Waldenberger, L. Wallentin, D. M. Waterworth, H. D. White, J. G. Wilson, T. Y. Wong, M. Woodward, Q. Yang, M. Yasuda, L. M. Yerges-Armstrong, Y. Zhang, H. Snieder, C. Wanner, C. A. Boger, A. Kottgen, F. Kronenberg, C. Pattaro, I. M. Heid

Date Published: 30th Oct 2020

Publication Type: Journal article

Metadata Management for Data Integration in Medical Sciences - Experiences from the LIFE Study -
LIFE - Leipzig Research Center for Civilization Diseases

Abstract (Expand)

Clinical and epidemiological studies are commonly used in medical sciences. They typically collect data by using different input forms and information systems. Metadata describing input forms, database … schemas and input systems are used for data integration but are typically distributed over different software tools; each uses portions of metadata, such as for loading (ETL), data presentation and analysis. In this paper, we describe an approach managing metadata centrally and consistently in a dedicated Metadata Repository (MDR). Metadata can be provided to different tools. Moreover, the MDR includes a matching component creating schema mappings as a prerequisite to integrate captured medical data. We describe the approach, the MDR infrastructure and provide algorithms for creating schema mappings. Finally, we show selected evaluation results. The MDR is fully operational and used to integrate data from a multitude of input forms and systems in the epidemiological study LIFE.

Authors: Toralf Kirsten, A. Kiel, M. Rühle, J.Wagner

Date Published: 2nd Mar 2017

Publication Type: Not specified

Modeling combined chemo- and immunotherapy of high-grade non-Hodgkin lymphoma.
LIFE - Leipzig Research Center for Civilization Diseases, Genetical Statistics and Systems Biology

Abstract (Expand)

Moderate, but not massive intensification of CHOP-21 improves outcome in aggressive non-Hodgkin lymphoma. Adding immunotherapy with Rituximab was a break-through, but levels differences in chemotherapy. … Ongoing trials attempt to optimize R-CHOP type regimens. We present a mathematical model of chemo-immunotherapy to explain published and aiming at predicting future trials comparing R-CHOP variants. We hypothesize that, for cure, the immune system must dominate residual tumor cells at the end of treatment. Chemotherapy reduces both tumor and immune cells. Rituximab immunotherapy boosts the immune response. We translate this reasoning into a differential equations model. Model parameters are estimated using data of randomized clinical trials in elderly patients. The model explains observed hazard ratios between treatments. It explains why too intense chemotherapy could be detrimental. The model is validated predicting six published independent studies. As an application, we varied treatment schedules and predict that current R-CHOP variants have only limited optimization potential.

Authors: K. Rosch, M. Scholz, D. Hasenclever

Date Published: 16th Dec 2015

Publication Type: Not specified

Human Diseases: lymphoma

Monitoring Motor Skills of Children and Adolescents in LIFE Child
LIFE - Leipzig Research Center for Civilization Diseases

Abstract (Expand)

Life Child is an epidemiological study running at the LIFE Research Center for Civilization Diseas-es (University of Leipzig) since 2011. It aims at monitoring the development in children and adolescents … by examining thousands of children in and around Leipzig. Of particular interest in this study are motor skills and physical activities of children between 6 and 18 years. There are multiple examinations including interviews, self-completed questionnaires and physical examinations (e.g., sport tests) to generate data describing the determined child as well her lifestyle and environment. The goal is to find causes for low to non physical activity and unincisive motor skills and capabilities since they are commonly attended with diseases, such as obesity and diabetes. As a first step in this direction, we analyzed data of specific sport tests, such as pushups, side steps and long jumps, according to the body mass index (BMI) of participants. We found that participants with high BMI achieve a similar number of pushups in early years like the normal BMI group, while in later years the pushup number of participants with normal BMI exceeds the pushup number of high BMI group. Surprisingly, the number of side steps is indifferent over age categories (6-18, yearly) between both groups. Conversely, the normal BMI group achieve higher distances through-out all age categories than the high BMI group. In future, we will associate these results with socio-economic and lifestyle indicators, e.g., interest in sport and physical activities of child and parents.

Authors: J. Lang, C. Warnatsch, M. Vogel, Toralf Kirsten, W. Kiess

Date Published: 17th Dec 2014

Publication Type: Not specified

Mortality in incident dementia - results from the German Study on Aging, Cognition, and Dementia in Primary Care Patients.
LIFE Adult

Abstract (Expand)

OBJECTIVE: Dementia is known to increase mortality, but the relative loss of life years and contributing factors are not well established. Thus, we aimed to investigate mortality in incident dementia … from disease onset. METHOD: Data were derived from the prospective longitudinal German AgeCoDe study. We used proportional hazards models to assess the impact of sociodemographic and health characteristics on mortality after dementia onset, Kaplan-Meier method for median survival times. RESULTS: Of 3214 subjects at risk, 523 (16.3%) developed incident dementia during a 9-year follow-up period. Median survival time after onset was 3.2 years (95% CI = 2.8-3.7) at a mean age of 85.0 (SD = 4.0) years (>/=2.6 life years lost compared with the general German population). Survival was shorter in older age, males other dementias than Alzheimer's, and in the absence of subjective memory complaints (SMC). CONCLUSION: Our findings emphasize that dementia substantially shortens life expectancy. Future studies should further investigate the potential impact of SMC on mortality in dementia.

Authors: S. Roehr, T. Luck, H. Bickel, C. Brettschneider, A. Ernst, A. Fuchs, K. Heser, H. H. Konig, F. Jessen, C. Lange, E. Mosch, M. Pentzek, S. Steinmann, S. Weyerer, J. Werle, B. Wiese, M. Scherer, W. Maier, S. G. Riedel-Heller

Date Published: 9th Jun 2015

Publication Type: Not specified

Human Diseases: cognitive disorder, dementia

Mortality in Individuals with Subjective Cognitive Decline: Results of the Leipzig Longitudinal Study of the Aged (LEILA75+).
LIFE Adult

Abstract (Expand)

BACKGROUND: Studies have shown that dementia and cognitive impairment can increase mortality, but less is known about the association between subjectively perceived cognitive deficits (subjective … cognitive decline, SCD) and mortality risk. OBJECTIVE: In this study, we analyzed mortality in non-demented individuals with SCD in a general population sample aged 75+ years. METHOD: Data were derived from the Leipzig Longitudinal Study of the Aged (LEILA75+). We used the Kaplan-Meier survival method to estimate survival times of individuals with and without SCD and multivariable Cox proportional hazards regression to assess the association between SCD and mortality risk, controlled for covariates. RESULTS: Out of 953 non-demented individuals at baseline, 117 (12.3% ) expressed SCD. Participants with SCD showed a significantly higher case-fatality rate per 1,000 person-years (114.8, 95% CI = 90.5-145.7 versus 71.7, 95% CI = 64.6-79.5) and a significantly shorter mean survival time than those without (5.4 versus 6.9 years, p < 0.001). The association between SCD and mortality remained significant in the Cox analysis; SCD increased mortality risk by about 50% (adjusted Hazard Ratio = 1.51) during the study period. Besides SCD, older age, male gender, diabetes mellitus, stroke, and lower global cognitive functioning were also significantly associated with increased mortality. CONCLUSION: Our findings suggest an increased mortality risk in non-demented older individuals with SCD. Even though further studies are required to analyze potential underlying mechanisms, subjective reports on cognitive deficits may be taken seriously in clinical practice not only for an increased risk of developing dementia and AD but also for a broader range of possible adverse health outcomes.

Authors: T. Luck, S. Roehr, F. Jessen, A. Villringer, M. C. Angermeyer, S. G. Riedel-Heller

Date Published: 24th Sep 2015

Publication Type: Not specified

Human Diseases: dementia

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed \sim480 SNPs at the TERT locus … in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 \times 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 \times 10(-8)) and BRCA1 mutation carrier (P = 1.1 \times 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 \times 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 \times 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 \times 10(-12)) and BRCA1 mutation carrier (P = 1.6 \times 10(-14)) breast and invasive ovarian (P = 1.3 \times 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.

Authors: Stig E. Bojesen, Karen A. Pooley, Sharon E. Johnatty, Jonathan Beesley, Kyriaki Michailidou, Jonathan P. Tyrer, Stacey L. Edwards, Hilda A. Pickett, Howard C. Shen, Chanel E. Smart, Kristine M. Hillman, Phuong L. Mai, Kate Lawrenson, Michael D. Stutz, Yi Lu, Rod Karevan, Nicholas Woods, Rebecca L. Johnston, Juliet D. French, Xiaoqing Chen, Maren Weischer, Sune F. Nielsen, Melanie J. Maranian, Maya Ghoussaini, Shahana Ahmed, Caroline Baynes, Manjeet K. Bolla, Qin Wang, Joe Dennis, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Michael Lush, Daniel C. Tessier, Daniel Vincent, Françis Bacot, Ignace Vergote, Sandrina Lambrechts, Evelyn Despierre, Harvey A. Risch, Anna González-Neira, Mary Anne Rossing, Guillermo Pita, Jennifer A. Doherty, Nuria Alvarez, Melissa C. Larson, Brooke L. Fridley, Nils Schoof, Jenny Chang-Claude, Mine S. Cicek, Julian Peto, Kimberly R. Kalli, Annegien Broeks, Sebastian M. Armasu, Marjanka K. Schmidt, Linde M. Braaf, Boris Winterhoff, Heli Nevanlinna, Gottfried E. Konecny, Diether Lambrechts, Lisa Rogmann, Pascal Guénel, Attila Teoman, Roger L. Milne, Joaquin J. Garcia, Angela Cox, Vijayalakshmi Shridhar, Barbara Burwinkel, Frederik Marme, Rebecca Hein, Elinor J. Sawyer, Christopher A. Haiman, Shan Wang-Gohrke, Irene L. Andrulis, Kirsten B. Moysich, John L. Hopper, Kunle Odunsi, Annika Lindblom, Graham G. Giles, Hermann Brenner, Jacques Simard, Galina Lurie, Peter A. Fasching, Michael E. Carney, Paolo Radice, Lynne R. Wilkens, Anthony Swerdlow, Marc T. Goodman, Hiltrud Brauch, Montserrat Garcia-Closas, Peter Hillemanns, Robert Winqvist, Matthias Dürst, Peter Devilee, Ingo Runnebaum, Anna Jakubowska, Jan Lubinski, Arto Mannermaa, Ralf Butzow, Natalia V. Bogdanova, Thilo Dörk, Liisa M. Pelttari, Wei Zheng, Arto Leminen, Hoda Anton-Culver, Clareann H. Bunker, Vessela Kristensen, Roberta B. Ness, Kenneth Muir, Robert Edwards, Alfons Meindl, Florian Heitz, Keitaro Matsuo, Andreas Du Bois, Anna H. Wu, Philipp Harter, Soo-Hwang Teo, Ira Schwaab, Xiao-Ou Shu, William Blot, Satoyo Hosono, Daehee Kang, Toru Nakanishi, Mikael Hartman, Yasushi Yatabe, Ute Hamann, Beth Y. Karlan, Suleeporn Sangrajrang, Susanne Krüger Kjaer, Valerie Gaborieau, Allan Jensen, Diana Eccles, Estrid Høgdall, Chen-Yang Shen, Judith Brown, Yin Ling Woo, Mitul Shah, Mat Adenan Noor Azmi, Robert Luben, Siti Zawiah Omar, Kamila Czene, Robert A. Vierkant, Børge G. Nordestgaard, Henrik Flyger, Celine Vachon, Janet E. Olson, Xianshu Wang, Douglas A. Levine, Anja Rudolph, Rachel Palmieri Weber, Dieter Flesch-Janys, Edwin Iversen, Stefan Nickels, Joellen M. Schildkraut, Isabel Dos Santos Silva, Daniel W. Cramer, Lorna Gibson, Kathryn L. Terry, Olivia Fletcher, Allison F. Vitonis, C. Ellen van der Schoot, Elizabeth M. Poole, Frans B. L. Hogervorst, Shelley S. Tworoger, Jianjun Liu, Elisa V. Bandera, Jingmei Li, Sara H. Olson, Keith Humphreys, Irene Orlow, Carl Blomqvist, Lorna Rodriguez-Rodriguez, Kristiina Aittomäki, Helga B. Salvesen, Taru A. Muranen, Elisabeth Wik, Barbara Brouwers, Camilla Krakstad, Els Wauters, Mari K. Halle, Hans Wildiers, Lambertus A. Kiemeney, Claire Mulot, Katja K. Aben, Pierre Laurent-Puig, Anne Mvan Altena, Thérèse Truong, Leon F. A. G. Massuger, Javier Benitez, Tanja Pejovic, Jose Ignacio Arias Perez, Maureen Hoatlin, M. Pilar Zamora, Linda S. Cook, Sabapathy P. Balasubramanian, Linda E. Kelemen, Andreas Schneeweiss, Nhu D. Le, Christof Sohn, Angela Brooks-Wilson, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Cezary Cybulski, Brian E. Henderson, Janusz Menkiszak, Fredrick Schumacher, Nicolas Wentzensen, Loic Le Marchand, Hannah P. Yang, Anna Marie Mulligan, Gord Glendon, Svend Aage Engelholm, Julia A. Knight, Claus K. Høgdall, Carmel Apicella, Martin Gore, Helen Tsimiklis, Honglin Song, Melissa C. Southey, Agnes Jager, Ans M. Wvan den Ouweland, Robert Brown, John W. M. Martens, James M. Flanagan, Mieke Kriege, James Paul, Sara Margolin, Nadeem Siddiqui, Gianluca Severi, Alice S. Whittemore, Laura Baglietto, Valerie McGuire, Christa Stegmaier, Weiva Sieh, Heiko Müller, Volker Arndt, France Labrèche, Yu-Tang Gao, Mark S. Goldberg, Gong Yang, Martine Dumont, John R. McLaughlin, Arndt Hartmann, Arif B. Ekici, Matthias W. Beckmann, Catherine M. Phelan, Michael P. Lux, Jenny Permuth-Wey, Bernard Peissel, Thomas A. Sellers, Filomena Ficarazzi, Monica Barile, Argyrios Ziogas, Alan Ashworth, Aleksandra Gentry-Maharaj, Michael Jones, Susan J. Ramus, Nick Orr, Usha Menon, Celeste L. Pearce, Thomas Brüning, Malcolm C. Pike, Yon-Dschun Ko, Jolanta Lissowska, Jonine Figueroa, Jolanta Kupryjanczyk, Stephen J. Chanock, Agnieszka Dansonka-Mieszkowska, Arja Jukkola-Vuorinen, Iwona K. Rzepecka, Katri Pylkäs, Mariusz Bidzinski, Saila Kauppila, Antoinette Hollestelle, Caroline Seynaeve, Rob A. E. M. Tollenaar, Katarzyna Durda, Katarzyna Jaworska, Jaana M. Hartikainen, Veli-Matti Kosma, Vesa Kataja, Natalia N. Antonenkova, Jirong Long, Martha Shrubsole, Sandra Deming-Halverson, Artitaya Lophatananon, Pornthep Siriwanarangsan, Sarah Stewart-Brown, Nina Ditsch, Peter Lichtner, Rita K. Schmutzler, Hidemi Ito, Hiroji Iwata, Kazuo Tajima, Chiu-Chen Tseng, Daniel O. Stram, David van den Berg, Cheng Har Yip, M. Kamran Ikram, Yew-Ching Teh, Hui Cai, Wei Lu, Lisa B. Signorello, Qiuyin Cai, Dong-Young Noh, Keun-Young Yoo, Hui Miao, Philip Tsau-Choong Iau, Yik Ying Teo, James McKay, Charles Shapiro, Foluso Ademuyiwa, George Fountzilas, Chia-Ni Hsiung, Jyh-Cherng Yu, Ming-Feng Hou, Catherine S. Healey, Craig Luccarini, Susan Peock, Dominique Stoppa-Lyonnet, Paolo Peterlongo, Timothy R. Rebbeck, Marion Piedmonte, Christian F. Singer, Eitan Friedman, Mads Thomassen, Kenneth Offit, Thomas v. O. Hansen, Susan L. Neuhausen, Csilla I. Szabo, Ignacio Blanco, Judy Garber, Steven A. Narod, Jeffrey N. Weitzel, Marco Montagna, Edith Olah, Andrew K. Godwin, Drakoulis Yannoukakos, David E. Goldgar, Trinidad Caldes, Evgeny N. Imyanitov, Laima Tihomirova, Banu K. Arun, Ian Campbell, Arjen R. Mensenkamp, Christi J. van Asperen, Kees E. P. van Roozendaal, Hanne Meijers-Heijboer, J. Margriet Collée, Jan C. Oosterwijk, Maartje J. Hooning, Matti A. Rookus, Rob B. van der Luijt, Theo A. Mvan Os, D. Gareth Evans, Debra Frost, Elena Fineberg, Julian Barwell, Lisa Walker, M. John Kennedy, Radka Platte, Rosemarie Davidson, Steve D. Ellis, Trevor Cole, Brigitte Bressac-de Paillerets, Bruno Buecher, Francesca Damiola, Laurence Faivre, Marc Frenay, Olga M. Sinilnikova, Olivier Caron, Sophie Giraud, Sylvie Mazoyer, Valérie Bonadona, Virginie Caux-Moncoutier, Aleksandra Toloczko-Grabarek, Jacek Gronwald, Tomasz Byrski, Amanda B. Spurdle, Bernardo Bonanni, Daniela Zaffaroni, Giuseppe Giannini, Loris Bernard, Riccardo Dolcetti, Siranoush Manoukian, Norbert Arnold, Christoph Engel, Helmut Deissler, Kerstin Rhiem, Dieter Niederacher, Hansjoerg Plendl, Christian Sutter, Barbara Wappenschmidt, Ake Borg, Beatrice Melin, Johanna Rantala, Maria Soller, Katherine L. Nathanson, Susan M. Domchek, Gustavo C. Rodriguez, Ritu Salani, Daphne Gschwantler Kaulich, Muy-Kheng Tea, Shani Shimon Paluch, Yael Laitman, Anne-Bine Skytte, Torben A. Kruse, Uffe Birk Jensen, Mark Robson, Anne-Marie Gerdes, Bent Ejlertsen, Lenka Foretova, Sharon A. Savage, Jenny Lester, Penny Soucy, Karoline B. Kuchenbaecker, Curtis Olswold, Julie M. Cunningham, Susan Slager, Vernon S. Pankratz, Ed Dicks, Sunil R. Lakhani, Fergus J. Couch, Per Hall, Alvaro N. A. Monteiro, Simon A. Gayther, Paul D. P. Pharoah, Roger R. Reddel, Ellen L. Goode, Mark H. Greene, Douglas F. Easton, Andrew Berchuck, Antonis C. Antoniou, Georgia Chenevix-Trench, Alison M. Dunning

Date Published: 1st Apr 2013

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium … of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.

Authors: Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I. Olopade, Angela R. Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N. Weitzel, T. L. Chan, Fergus J. Couch, David E. Goldgar, Torben A. Kruse, Edenir Inêz Palmero, Sue Kyung Park, Diana Torres, Elizabeth J. van Rensburg, Lesley McGuffog, Michael T. Parsons, Goska Leslie, Cora M. Aalfs, Julio Abugattas, Julian Adlard, Simona Agata, Kristiina Aittomäki, Lesley Andrews, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Banu K. Arun, Ella Asseryanis, Leo Auerbach, Jacopo Azzollini, Judith Balmaña, Monica Barile, Rosa B. Barkardottir, Daniel Barrowdale, Javier Benitez, Andreas Berger, Raanan Berger, Amie M. Blanco, Kathleen R. Blazer, Marinus J. Blok, Valérie Bonadona, Bernardo Bonanni, Angela R. Bradbury, Carole Brewer, Bruno Buecher, Saundra S. Buys, Trinidad Caldes, Almuth Caliebe, Maria A. Caligo, Ian Campbell, Sandrine M. Caputo, Jocelyne Chiquette, Wendy K. Chung, Kathleen B. M. Claes, J. Margriet Collée, Jackie Cook, Rosemarie Davidson, Miguel de La Hoya, Kim de Leeneer, Antoine de Pauw, Capucine Delnatte, Orland Diez, Yuan Chun Ding, Nina Ditsch, Susan M. Domchek, Cecilia M. Dorfling, Carolina Velazquez, Bernd Dworniczak, Jacqueline Eason, Douglas F. Easton, Ros Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, Stefanie Engert, D. Gareth Evans, Laurence Faivre, Lidia Feliubadaló, Sandra Fert Ferrer, Lenka Foretova, Jeffrey Fowler, Debra Frost, Henrique C. R. Galvão, Patricia A. Ganz, Judy Garber, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Sophie Giraud, Gord Glendon, Andrew K. Godwin, Mark H. Greene, Jacek Gronwald, Angelica Gutierrez-Barrera, Eric Hahnen, Jan Hauke, Alex Henderson, Julia Hentschel, Frans B. L. Hogervorst, Ellen Honisch, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M. John, Joseph Vijai, Katarzyna Kaczmarek, Beth Y. Karlan, Karin Kast, Kconfab Investigators, Sung-Won Kim, Irene Konstantopoulou, Jacob Korach, Yael Laitman, Adriana Lasa, Christine Lasset, Conxi Lázaro, Annette Lee, Min Hyuk Lee, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Noralane M. Lindor, Michel Longy, Jennifer T. Loud, Karen H. Lu, Jan Lubinski, Eva Machackova, Siranoush Manoukian, Véronique Mari, Cristina Martínez-Bouzas, Zoltan Matrai, Noura Mebirouk, Hanne E. J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Ugnius Mickys, Austin Miller, Marco Montagna, Kirsten B. Moysich, Anna Marie Mulligan, Jacob Musinsky, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow, Huu Phuc Nguyen, Dieter Niederacher, Henriette Roed Nielsen, Finn Cilius Nielsen, Robert L. Nussbaum, Kenneth Offit, Anna Öfverholm, Kai-Ren Ong, Ana Osorio, Laura Papi, Janos Papp, Barbara Pasini, Inge Sokilde Pedersen, Ana Peixoto, Nina Peruga, Paolo Peterlongo, Esther Pohl, Nisha Pradhan, Karolina Prajzendanc, Fabienne Prieur, Pascal Pujol, Paolo Radice, Susan J. Ramus, Johanna Rantala, Muhammad Usman Rashid, Kerstin Rhiem, Mark Robson, Gustavo C. Rodriguez, Mark T. Rogers, Vilius Rudaitis, Ane Y. Schmidt, Rita Katharina Schmutzler, Leigha Senter, Payal D. Shah, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Anne-Bine Skytte, Thomas P. Slavin, Katie Snape, Hagay Sobol, Melissa Southey, Linda Steele, Doris Steinemann, Grzegorz Sukiennicki, Christian Sutter, Csilla I. Szabo, Yen Y. Tan, Manuel R. Teixeira, Mary Beth Terry, Alex Teulé, Abigail Thomas, Darcy L. Thull, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Sabine Topka, Alison H. Trainer, Nadine Tung, Christi J. van Asperen, Annemieke H. van der Hout, Lizet E. van der Kolk, Rob B. van der Luijt, Mattias van Heetvelde, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Cynthia Villarreal-Garza, Anna von Wachenfeldt, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H. F. Weber, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Jamal Zidan, Kristin K. Zorn, Christina G. Hutten Selkirk, Peter J. Hulick, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, Katherine L. Nathanson

Date Published: 1st May 2018

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Myocardial Infarction-Associated Circular RNA Predicting Left Ventricular Dysfunction.
Genetical Statistics and Systems Biology, LIFE Heart

Abstract

Not specified

Authors: M. Vausort, A. Salgado-Somoza, L. Zhang, P. Leszek, M. Scholz, A. Teren, R. Burkhardt, J. Thiery, D. R. Wagner, Y. Devaux

Date Published: 13th Sep 2016

Publication Type: Journal article

Human Diseases: left ventricular noncompaction, myocardial infarction

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