Marcus Wagner

About Marcus Wagner:

Universität Leipzig Institut für Medizinische Informatik, Statistik und Epidemiologie (IMISE) Härtelstr. 16-18 04107 Leipzig

LHA ID: 7WDTMN3UAR-9

Location:  Germany

ORCID: https://orcid.org/0000-0001-9063-1452

Joined: 23rd May 2019

Expertise: Not specified

Tools: Not specified

help Their tags

This person has not yet tagged anything.

Related items

EarlyAMDRate
No description specified

Programme: This Project is not associated with a Programme

Public web page: Not specified

MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

The joint project "MMML Demonstrators" deals with improvements in the diagnosis and therapy of lymphoma and consists of seven subprojects. In lymphoma, the so-called diffuse large cell B-cell lymphomas (DLBCL) are responsible for the highest number of deaths. Although the disease is curable in principle, approximately one third of patients still die. However, the expression of certain genes in tumor cells and surrounding tissues can be used to diagnose certain subgroups of these tumors and, in ...

Programme: This Project is not associated with a Programme

Public web page: https://www.sys-med.de/de/demonstratoren/mmml-demonstrators/

Start date: 1st Jan 2015

End date: 31st Dec 2018

GLA - German Lymphoma Alliance: inactive since

B-cell lymphoma is the most frequent lymphoid neoplasia accounting for one third of all lymphomas. R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone) is the current treatment standard, leading to high cure rates especially in younger patients. Although the 3-year event-free survival is about 60% even for elderly patients between 60-80 years old, the remainder of patients eventually relapse and the majority die of their disease. The German Non-Hodgkin's Lymphoma Study ...

Programme: NHL

Public web page: https://www.dshnhl.org

Morphometric image analysis of IHC stained lymphoma tissue samples
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

ROF filter based segmentation methods will be employed for automated recognition of macrophages, B-cells and cell nuclei within the tissue samples.

Submitter: René Hänsel

Studies: No Studies

Resources: No Resources

An image dataset related to automated macrophage detection in immunostained lymphoma tissue samples
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

Abstract (Expand)

A large set of IHC stained DLBCL specimens is provided together with segmentation masks for different cell populations generated by a reference method for automated image analysis, thus featuring … considerable reuse potential. Provided image data comprise a) fluorescence microscopy images of 44 multiple immunohistostained DLBCL tumor subregions, captured at four channels corresponding to CD14, CD163, Pax5 and DAPI; b) cartoon-filtered versions of these images, generated by Rudin-Osher-Fatemi (ROF) denoising; c) an automatically generated mask of the evaluation subregion, based on information from the DAPI channel, and d) automatically generated segmentation masks for macrophages, B-cells and the total of cell nuclei, using information from CD14, CD163, Pax5 and DAPI channels, respectively.

Authors: Marcus Wagner, Sarah Reinke, René Hänsel, Wolfram Klapper, Ulf-Dietrich Braumann

Date Published: 12th Mar 2020

Publication Type: Journal article

Human Diseases: diffuse large B-cell lymphoma

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer (PCa). We evaluated whether PSVs in BRCA1/2 were associated with risk … of overall PCa or high grade (Gleason 8+) PCa using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with PCa, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without PCa. PSVs in the 3’ region of BRCA2 (c.7914+) were significantly associated with elevated risk of PCa compared with reference bin c.1001-c.7913 (HR=1.78, 95%CI: 1.25-2.52, p=0.001), as well as elevated risk of Gleason 8+ PCa (HR=3.11, 95%CI: 1.63-5.95, p=0.001). c.756-c.1000 was also associated with elevated PCa risk (HR=2.83, 95%CI: 1.71-4.68, p=0.00004) and elevated risk of Gleason 8+ PCa (HR=4.95, 95%CI: 2.12-11.54, p=0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive PCa.

Authors: Vivek L. Patel, Evan L. Busch, Tara M. Friebel, Angel Cronin, Goska Leslie, Lesley McGuffog, Julian Adlard, Simona Agata, Bjarni A. Agnarsson, Munaza Ahmed, Kristiina Aittomäki, Elisa Alducci, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Grazia Artioli, Brita Arver, Bernd Auber, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Daniel R. Barnes, Alicia Barroso, Daniel Barrowdale, Muriel Belotti, Javier Benitez, Brigitte Bertelsen, Marinus J. Blok, Istvan Bodrogi, Valérie Bonadona, Bernardo Bonanni, Davide Bondavalli, Susanne E. Boonen, Julika Borde, Ake Borg, Angela R. Bradbury, Angela Brady, Carole Brewer, Joan Brunet, Bruno Buecher, Saundra S. Buys, Santiago Cabezas-Camarero, Trinidad Caldés, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Ian G. Campbell, Ileana Carnevali, Estela Carrasco, Tsun L. Chan, Annie T. W. Chu, Wendy K. Chung, Kathleen B. M. Claes, Gemo Study Collaborators, Embrace Collaborators, Jackie Cook, Laura Cortesi, Fergus J. Couch, Mary B. Daly, Giuseppe Damante, Esther Darder, Rosemarie Davidson, Miguel de La Hoya, Lara Della Puppa, Joe Dennis, Orland Díez, Yuan Chun Ding, Nina Ditsch, Susan M. Domchek, Alan Donaldson, Bernd Dworniczak, Douglas F. Easton, Diana M. Eccles, Rosalind A. Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Laurence Faivre, Ulrike Faust, Lídia Feliubadaló, Lenka Foretova, Florentia Fostira, George Fountzilas, Debra Frost, Vanesa García-Barberán, Pilar Garre, Marion Gauthier-Villars, Lajos Géczi, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Angelica M. Gutierrez-Barrera, Eric Hahnen, Ute Hamann, Jan Hauke, Natalie Herold, Frans B. L. Hogervorst, Ellen Honisch, John L. Hopper, Peter J. Hulick, Kconfab Investigators, Hebon Investigators, Louise Izatt, Agnes Jager, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Thomas Dyrso Jensen, Oskar Th Johannsson, Esther M. John, Vijai Joseph, Eunyoung Kang, Karin Kast, Johanna I. Kiiski, Sung-Won Kim, Zisun Kim, Kwang-Pil Ko, Irene Konstantopoulou, Gero Kramer, Lotte Krogh, Torben A. Kruse, Ava Kwong, Mirjam Larsen, Christine Lasset, Charlotte Lautrup, Conxi Lázaro, Jihyoun Lee, Jong Won Lee, Min Hyuk Lee, Johannes Lemke, Fabienne Lesueur, Annelie Liljegren, Annika Lindblom, Patricia Llovet, Adria Lopez-Fernández, Irene Lopez-Perolio, Victor Lorca, Jennifer T. Loud, Edmond S. K. Ma, Phuong L. Mai, Siranoush Manoukian, Veronique Mari, Lynn Martin, Laura Matricardi, Noura Mebirouk, Veronica Medici, Hanne E. J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Clare Miller, Denise Molina Gomes, Marco Montagna, Thea M. Mooij, Lidia Moserle, Emmanuelle Mouret-Fourme, Anna Marie Mulligan, Katherine L. Nathanson, Marie Navratilova, Heli Nevanlinna, Dieter Niederacher, Finn C. Cilius Nielsen, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Kai-Ren Ong, Ana Osorio, Claus-Eric Ott, Domenico Palli, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Ana Peixoto, Pedro Pérez-Segura, Paolo Peterlongo, Annabeth Høgh Petersen, Mary E. Porteous, Miguel Angel Pujana, Paolo Radice, Juliane Ramser, Johanna Rantala, Muhammad U. Rashid, Kerstin Rhiem, Piera Rizzolo, Mark E. Robson, Matti A. Rookus, Caroline Maria Rossing, Kathryn J. Ruddy, Catarina Santos, Claire Saule, Rosa Scarpitta, Rita K. Schmutzler, Hélène Schuster, Leigha Senter, Caroline M. Seynaeve, Payal D. Shah, Priyanka Sharma, Vivian Y. Shin, Valentina Silvestri, Jacques Simard, Christian F. Singer, Anne-Bine Skytte, Katie Snape, Angela R. Solano, Penny Soucy, Melissa C. Southey, Amanda B. Spurdle, Linda Steele, Doris Steinemann, Dominique Stoppa-Lyonnet, Agostina Stradella, Lone Sunde, Christian Sutter, Yen Y. Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Maria Grazia Tibiletti, Marc Tischkowitz, Silvia Tognazzo, Amanda E. Toland, Stefania Tommasi, Diana Torres, Angela Toss, Alison H. Trainer, Nadine Tung, Christi J. van Asperen, Frederieke H. van der Baan, Lizet E. van der Kolk, Rob B. van der Luijt, Liselotte P. van Hest, Liliana Varesco, Raymonda Varon-Mateeva, Alessandra Viel, Jeroen Vierstraete, Roberta Villa, Anna von Wachenfeldt, Philipp Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N. Weitzel, Greet Wieme, Siddhartha Yadav, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Kristin K. Zorn, Anthony V. D’Amico, Matthew L. Freedman, Mark M. Pomerantz, Georgia Chenevix-Trench, Antonis C. Antoniou, Susan L. Neuhausen, Laura Ottini, Henriette Roed Nielsen, Timothy R. Rebbeck

Date Published: 13th Nov 2019

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated … in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.

Authors: Michael T. Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M. Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmaña, Elena Barbieri, Claus R. Bartram, Ana Blanco, Britta Blümcke, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Gabriele L. Capone, Sandrine M. Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux-Moncoutier, Pietro Cavalli, Giulia Cini, Edward M. Clarke, Paola Concolino, Elisa J. Cops, Laura Cortesi, Fergus J. Couch, Esther Darder, Miguel de La Hoya, Michael Dean, Irmgard Debatin, Jesús Del Valle, Capucine Delnatte, Nicolas Derive, Orland Diez, Nina Ditsch, Susan M. Domchek, Véronique Dutrannoy, Diana M. Eccles, Hans Ehrencrona, Ute Enders, D. Gareth Evans, Ulrike Faust, Ute Felbor, Irene Feroce, Miriam Fine, Henrique C. R. Galvao, Gaetana Gambino, Andrea Gehrig, Francesca Gensini, Anne-Marie Gerdes, Aldo Germani, Jutta Giesecke, Viviana Gismondi, Carolina Gómez, Encarna B. Gómez Garcia, Sara González, Elia Grau, Sabine Grill, Eva Gross, Aliana Guerrieri-Gonzaga, Marine Guillaud-Bataille, Sara Gutiérrez-Enríquez, Thomas Haaf, Karl Hackmann, Thomas v. O. Hansen, Marion Harris, Jan Hauke, Tilman Heinrich, Heide Hellebrand, Karen N. Herold, Ellen Honisch, Judit Horvath, Claude Houdayer, Verena Hübbel, Silvia Iglesias, Angel Izquierdo, Paul A. James, Linda A. M. Janssen, Udo Jeschke, Silke Kaulfuß, Katharina Keupp, Marion Kiechle, Alexandra Kölbl, Sophie Krieger, Torben A. Kruse, Anders Kvist, Fiona Lalloo, Mirjam Larsen, Vanessa L. Lattimore, Charlotte Lautrup, Susanne Ledig, Elena Leinert, Alexandra L. Lewis, Joanna Lim, Markus Loeffler, Adrià López-Fernández, Emanuela Lucci-Cordisco, Nicolai Maass, Siranoush Manoukian, Monica Marabelli, Laura Matricardi, Alfons Meindl, Rodrigo D. Michelli, Setareh Moghadasi, Alejandro Moles-Fernández, Marco Montagna, Gemma Montalban, Alvaro N. Monteiro, Eva Montes, Luigi Mori, Lidia Moserle, Clemens R. Müller, Christoph Mundhenke, Nadia Naldi, Katherine L. Nathanson, Matilde Navarro, Heli Nevanlinna, Cassandra B. Nichols, Dieter Niederacher, Henriette R. Nielsen, Kai-Ren Ong, Nicholas Pachter, Edenir I. Palmero, Laura Papi, Inge Sokilde Pedersen, Bernard Peissel, Pedro Pérez-Segura, Katharina Pfeifer, Marta Pineda, Esther Pohl-Rescigno, Nicola K. Poplawski, Berardino Porfirio, Anne S. Quante, Juliane Ramser, Rui M. Reis, Françoise Revillion, Kerstin Rhiem, Barbara Riboli, Julia Ritter, Daniela Rivera, Paula Rofes, Andreas Rump, Monica Salinas, Ana María Sánchez de Abajo, Gunnar Schmidt, Ulrike Schoenwiese, Jochen Seggewiß, Ares Solanes, Doris Steinemann, Mathias Stiller, Dominique Stoppa-Lyonnet, Kelly J. Sullivan, Rachel Susman, Christian Sutter, Sean V. Tavtigian, Soo H. Teo, Alex Teulé, Mads Thomassen, Maria Grazia Tibiletti, Silvia Tognazzo, Amanda E. Toland, Eva Tornero, Therese Törngren, Sara Torres-Esquius, Angela Toss, Alison H. Trainer, Christi J. van Asperen, Marion T. van Mackelenbergh, Liliana Varesco, Gardenia Vargas-Parra, Raymonda Varon, Ana Vega, Ángela Velasco, Anne-Sophie Vesper, Alessandra Viel, Maaike P. G. Vreeswijk, Sebastian A. Wagner, Anke Waha, Logan C. Walker, Rhiannon J. Walters, Shan Wang-Gohrke, Bernhard H. F. Weber, Wilko Weichert, Kerstin Wieland, Lisa Wiesmüller, Isabell Witzel, Achim Wöckel, Emma R. Woodward, Silke Zachariae, Valentina Zampiga, Christine Zeder-Göß, Conxi Lázaro, Arcangela de Nicolo, Paolo Radice, Christoph Engel, Rita K. Schmutzler, David E. Goldgar, Amanda B. Spurdle

Date Published: 1st Sep 2019

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

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

Automated detection of the choroid boundary within OCT image data using quadratic measure filters.
LIFE Child

Abstract (Expand)

A novel method for the automated detection of the outer choroid boundary within spectral-domain optical coherence tomography image data, based on an image model within the space of functions of bounded … variation and the application of quadratic measure filters, is presented. The same method is used for the segmentation of retinal layer boundaries and proves to be suitable even for data generated without special imaging modes and moderate line averaging. Based on the segmentations, an automated determination of the central fovea region and choroidal thickness measurements for this and two adjacent 1-mm regions are provided. The quality of the method is assessed by comparison with manual delineations performed by five trained graders. The study is based on data from 50 children of the ages 8 to 13 that were obtained in the framework of the LIFE Child study at Leipzig University.

Authors: M. Wagner, P. Scheibe, M. Francke, B. Zimmerling, K. Frey, M. Vogel, S. Luckhaus, P. Wiedemann, W. Kiess, F. G. Rauscher

Date Published: 1st Feb 2017

Publication Type: Journal article

Subjective Cognitive Decline in Older Adults: An Overview of Self-Report Measures Used Across 19 International Research Studies.
LIFE Adult

Abstract (Expand)

Research increasingly suggests that subjective cognitive decline (SCD) in older adults, in the absence of objective cognitive dysfunction or depression, may be a harbinger of non-normative cognitive … decline and eventual progression to dementia. Little is known, however, about the key features of self-report measures currently used to assess SCD. The Subjective Cognitive Decline Initiative (SCD-I) Working Group is an international consortium established to develop a conceptual framework and research criteria for SCD (Jessen et al., 2014, Alzheimers Dement 10, 844-852). In the current study we systematically compared cognitive self-report items used by 19 SCD-I Working Group studies, representing 8 countries and 5 languages. We identified 34 self-report measures comprising 640 cognitive self-report items. There was little overlap among measures- approximately 75% of measures were used by only one study. Wide variation existed in response options and item content. Items pertaining to the memory domain predominated, accounting for about 60% of items surveyed, followed by executive function and attention, with 16% and 11% of the items, respectively. Items relating to memory for the names of people and the placement of common objects were represented on the greatest percentage of measures (56% each). Working group members reported that instrument selection decisions were often based on practical considerations beyond the study of SCD specifically, such as availability and brevity of measures. Results document the heterogeneity of approaches across studies to the emerging construct of SCD. We offer preliminary recommendations for instrument selection and future research directions including identifying items and measure formats associated with important clinical outcomes.

Authors: L. A. Rabin, C. M. Smart, P. K. Crane, R. E. Amariglio, L. M. Berman, M. Boada, R. F. Buckley, G. Chetelat, B. Dubois, K. A. Ellis, K. A. Gifford, A. L. Jefferson, F. Jessen, M. J. Katz, R. B. Lipton, T. Luck, P. Maruff, M. M. Mielke, J. L. Molinuevo, F. Naeem, A. Perrotin, R. C. Petersen, L. Rami, B. Reisberg, D. M. Rentz, S. G. Riedel-Heller, S. L. Risacher, O. Rodriguez, P. S. Sachdev, A. J. Saykin, M. J. Slavin, B. E. Snitz, R. A. Sperling, C. Tandetnik, W. M. van der Flier, M. Wagner, S. Wolfsgruber, S. A. Sikkes

Date Published: 24th Sep 2015

Publication Type: Not specified

Human Diseases: cognitive disorder, dementia

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A … recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. To investigate whether these loci are also associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, we genotyped these SNPs in a sample of 10,358 mutation carriers from 23 studies. The minor alleles of SNP rs2981582 and rs889312 were each associated with increased breast cancer risk in BRCA2 mutation carriers (per-allele hazard ratio [HR] = 1.32, 95% CI: 1.20-1.45, p(trend) = 1.7 x 10(-8) and HR = 1.12, 95% CI: 1.02-1.24, p(trend) = 0.02) but not in BRCA1 carriers. rs3803662 was associated with increased breast cancer risk in both BRCA1 and BRCA2 mutation carriers (per-allele HR = 1.13, 95% CI: 1.06-1.20, p(trend) = 5 x 10(-5) in BRCA1 and BRCA2 combined). These loci appear to interact multiplicatively on breast cancer risk in BRCA2 mutation carriers. The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.

Authors: Antonis C. Antoniou, Amanda B. Spurdle, Olga M. Sinilnikova, Sue Healey, Karen A. Pooley, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Wera Hofmann, Christian Sutter, Dieter Niederacher, Helmut Deissler, Trinidad Caldes, Kati Kämpjärvi, Heli Nevanlinna, Jacques Simard, Jonathan Beesley, Xiaoqing Chen, Susan L. Neuhausen, Timothy R. Rebbeck, Theresa Wagner, Henry T. Lynch, Claudine Isaacs, Jeffrey Weitzel, Patricia A. Ganz, Mary B. Daly, Gail Tomlinson, Olufunmilayo I. Olopade, Joanne L. Blum, Fergus J. Couch, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Paolo Radice, Csilla I. Szabo, Lutecia H. Mateus Pereira, Mark H. Greene, Gad Rennert, Flavio Lejbkowicz, Ofra Barnett-Griness, Irene L. Andrulis, Hilmi Ozcelik, Anne-Marie Gerdes, Maria A. Caligo, Yael Laitman, Bella Kaufman, Roni Milgrom, Eitan Friedman, Susan M. Domchek, Katherine L. Nathanson, Ana Osorio, Gemma Llort, Roger L. Milne, Javier Benítez, Ute Hamann, Frans B. L. Hogervorst, Peggy Manders, Marjolijn J. L. Ligtenberg, Ans M. W. van den Ouweland, Susan Peock, Margaret Cook, Radka Platte, D. Gareth Evans, Rosalind Eeles, Gabriella Pichert, Carol Chu, Diana Eccles, Rosemarie Davidson, Fiona Douglas, Andrew K. Godwin, Laure Barjhoux, Sylvie Mazoyer, Hagay Sobol, Violaine Bourdon, François Eisinger, Agnès Chompret, Corinne Capoulade, Brigitte Bressac-de Paillerets, Gilbert M. Lenoir, Marion Gauthier-Villars, Claude Houdayer, Dominique Stoppa-Lyonnet, Georgia Chenevix-Trench, Douglas F. Easton

Date Published: 1st Apr 2008

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

RAD51 135G–C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

RAD51 is an important component of double-stranded DNA-repair mechanisms that interacts with both BRCA1 and BRCA2. A single-nucleotide polymorphism (SNP) in the 5’ untranslated region (UTR) of RAD51, … 135G–\textgreaterC, has been suggested as a possible modifier of breast cancer risk in BRCA1 and BRCA2 mutation carriers. We pooled genotype data for 8,512 female mutation carriers from 19 studies for the RAD51 135G–\textgreaterC SNP. We found evidence of an increased breast cancer risk in CC homozygotes (hazard ratio [HR] 1.92 [95% confidence interval CI 1.25-2.94) but not in heterozygotes (HR 0.95 [95% CI 0.83-1.07]; P=.002, by heterogeneity test with 2 degrees of freedom [df]). When BRCA1 and BRCA2 mutation carriers were analyzed separately, the increased risk was statistically significant only among BRCA2 mutation carriers, in whom we observed HRs of 1.17 (95% CI 0.91-1.51) among heterozygotes and 3.18 (95% CI 1.39-7.27) among rare homozygotes (P=.0007, by heterogeneity test with 2 df). In addition, we determined that the 135G–\textgreaterC variant affects RAD51 splicing within the 5’ UTR. Thus, 135G–\textgreaterC may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers.

Authors: Antonis C. Antoniou, Olga M. Sinilnikova, Jacques Simard, Mélanie Léoné, Martine Dumont, Susan L. Neuhausen, Jeffery P. Struewing, Dominique Stoppa-Lyonnet, Laure Barjhoux, David J. Hughes, Isabelle Coupier, Muriel Belotti, Christine Lasset, Valérie Bonadona, Yves-Jean Bignon, Timothy R. Rebbeck, Theresa Wagner, Henry T. Lynch, Susan M. Domchek, Katherine L. Nathanson, Judy E. Garber, Jeffrey Weitzel, Steven A. Narod, Gail Tomlinson, Olufunmilayo I. Olopade, Andrew Godwin, Claudine Isaacs, Anna Jakubowska, Jan Lubinski, Jacek Gronwald, Bohdan Górski, Tomasz Byrski, Tomasz Huzarski, Susan Peock, Margaret Cook, Caroline Baynes, Alexandra Murray, Mark Rogers, Peter A. Daly, Huw Dorkins, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Dieter Niederacher, Helmut Deissler, Amanda B. Spurdle, Xiaoqing Chen, Nicola Waddell, Nicole Cloonan, Tomas Kirchhoff, Kenneth Offit, Eitan Friedman, Bella Kaufmann, Yael Laitman, Gilli Galore, Gad Rennert, Flavio Lejbkowicz, Leon Raskin, Irene L. Andrulis, Eduard Ilyushik, Hilmi Ozcelik, Peter Devilee, Maaike P. G. Vreeswijk, Mark H. Greene, Sheila A. Prindiville, Ana Osorio, Javier Benitez, Michal Zikan, Csilla I. Szabo, Outi Kilpivaara, Heli Nevanlinna, Ute Hamann, Francine Durocher, Adalgeir Arason, Fergus J. Couch, Douglas F. Easton, Georgia Chenevix-Trench

Date Published: 1st Dec 2007

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and … BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2. Consortium of Investigators of Modifiers of BRCA1/2 was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4,935 BRCA1 and 2,241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations was genotyped for F31I. Overall, homozygosity for the 31I allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined [hazard ratio (HR), 0.91; 95% confidence interval (95% CI), 0.77-1.06]. Similarly, no significant association was seen in BRCA1 (HR, 0.90; 95% CI, 0.75-1.08) or BRCA2 carriers (HR, 0.93; 95% CI, 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers.

Authors: Fergus J. Couch, Olga Sinilnikova, Robert A. Vierkant, V. Shane Pankratz, Zachary S. Fredericksen, Dominique Stoppa-Lyonnet, Isabelle Coupier, David Hughes, Agnès Hardouin, Pascaline Berthet, Susan Peock, Margaret Cook, Caroline Baynes, Shirley Hodgson, Patrick J. Morrison, Mary E. Porteous, Anna Jakubowska, Jan Lubinski, Jacek Gronwald, Amanda B. Spurdle, Rita Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Christian Sutter, Jurgen Horst, Dieter Schaefer, Kenneth Offit, Tomas Kirchhoff, Irene L. Andrulis, Eduard Ilyushik, Gordon Glendon, Peter Devilee, Maaike P. G. Vreeswijk, Hans F. A. Vasen, Ake Borg, Katja Backenhorn, Jeffery P. Struewing, Mark H. Greene, Susan L. Neuhausen, Timothy R. Rebbeck, Katherine Nathanson, Susan Domchek, Theresa Wagner, Judy E. Garber, Csilla Szabo, Michal Zikan, Lenka Foretova, Janet E. Olson, Thomas A. Sellers, Noralane Lindor, Heli Nevanlinna, Johanna Tommiska, Kristiina Aittomaki, Ute Hamann, Muhammad U. Rashid, Diana Torres, Jacques Simard, Francine Durocher, Frederic Guenard, Henry T. Lynch, Claudine Isaacs, Jeffrey Weitzel, Olufunmilayo I. Olopade, Steven Narod, Mary B. Daly, Andrew K. Godwin, Gail Tomlinson, Douglas F. Easton, Georgia Chenevix-Trench, Antonis C. Antoniou

Date Published: 1st Jul 2007

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Automated macrophage counting in DLBCL tissue samples: a ROF filter based approach
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

Abstract (Expand)

We describe a Rudin-Osher-Fatemi (ROF) filter based segmentation approach for whole tissue samples, combining floating intensity thresholding and rule-based feature detection. Method is validated against … manual counts and compared with two commercial software kits (Tissue Studio 64, Definiens AG, and Halo, Indica Labs) and a straightforward machine-learning approach in a set of 50 test images. Further, the novel method and both commercial packages are applied to a set of 44 whole tissue sections. Outputs are compared with gene expression data available for the same tissue samples. Finally, the ROF based method is applied to 44 expert-specified tumor subregions for testing selection and subsampling strategies. Our method is deterministic, fully automated, externally repeatable, independent on training data and -- in difference to most commercial software kits -- completely documented. Among all tested methods, the novel approach is best correlated with manual count (0.9297). Automated detection of evaluation subregions proved to be fully reliable. Subsampling within tumor subregions is possible with results almost identical to full sampling. Comparison with gene expression data obtained for the same tissue samples reveals only moderate to low correlation levels, thus indicating that image morphometry constitutes an independent source of information about antibody-polarized macrophage occurence and distribution.

Authors: Marcus Wagner, René Hänsel, Sarah Reinke, Julia Richter, Michael Altenbuchinger, Ulf-Dietrich Braumann, Rainer Spang, Markus Löffler, Wolfram Klapper

Date Published: No date defined

Publication Type: Not specified

Human Diseases: diffuse large B-cell lymphoma

Software package EarlyAMDRate version 0.1
EarlyAMDRate

A set of MATLAB functions related to the grading platform EarlyAMDRate for AMD lesions in OCT images, including test examples.

Creators: None

Submitter: Marcus Wagner

Data file type: Not specified

Download
Image collection: IHC stained DLBCL tumor subregion #44, Part 2/2
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #44, Part 1/2
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #43
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #42
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #41
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #40
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #39
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #38
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
Image collection: IHC stained DLBCL tumor subregion #37
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

For a closer description, see the publication to which the file is attached.

Creators: René Hänsel, Marcus Wagner

Submitter: Marcus Wagner

Data file type: Image Data

Download
ROF filter based macrophage segmentation in IHC stained tissue samples: MATLAB procedures
MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine

This is a set of MATLAB procedures for automated segmentation and counting of macrophages in multiple IHC stained tissue samples. Execution assumes that three aligned single-channel greyscale images of a given tissue area are available, representing IHC stainings with CD14 and CD163 antibodies (targeting macrophages) as well as DAPI staining (targeting cell cores). After detection of evaluation subregion (based on DAPI channel information), IHC stained macrophages will be masked and counted (based ...

Creators: René Hänsel, Marcus Wagner

Submitter: René Hänsel

Download
Description of software package EarlyAMDRate version 0.1 per 28.10.2024
EarlyAMDRate
No description specified

Creator: Marcus Wagner

Submitter: Marcus Wagner

Download

Navigate

Health Atlas - Local Data Hub/Leipzig

The Health Atlas - Local Data Hub/Leipzig is an alliance of medical ontologists, medical systems biologists and clinical trials groups to design and implement a multi-functional and quality-assured atlas. It provides models, data and metadata on specific use cases from medical research fields.

Registered Repository

re3data.org Badge
Powered by
 (v.1.13.0-master)
Health Atlas | Funding and Programmes | Credits | Terms & Conditions | Privacy Policy | Imprint
Copyright © 2008 - 2021 The University of Manchester and HITS gGmbH
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig

By continuing to use this site you agree to the use of cookies