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3. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., Goldberg Y., Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., and Goldberg Y.

Abstract

Background: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We ackno

Published
2023

5. Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers

Author

Jahn, A., primary, Rump, A., additional, Widmann, T.J., additional, Heining, C., additional, Horak, P., additional, Hutter, B., additional, Paramasivam, N., additional, Uhrig, S., additional, Gieldon, L., additional, Drukewitz, S., additional, Kübler, A., additional, Bermudez, M., additional, Hackmann, K., additional, Porrmann, J., additional, Wagner, J., additional, Arlt, M., additional, Franke, M., additional, Fischer, J., additional, Kowalzyk, Z., additional, William, D., additional, Weth, V., additional, Oster, S., additional, Fröhlich, M., additional, Hüllein, J., additional, Valle González, C., additional, Kreutzfeldt, S., additional, Mock, A., additional, Heilig, C.E., additional, Lipka, D.B., additional, Möhrmann, L., additional, Hanf, D., additional, Oleś, M., additional, Teleanu, V., additional, Allgäuer, M., additional, Ruhnke, L., additional, Kutz, O., additional, Knurr, A., additional, Laßmann, A., additional, Endris, V., additional, Neumann, O., additional, Penzel, R., additional, Beck, K., additional, Richter, D., additional, Winter, U., additional, Wolf, S., additional, Pfütze, K., additional, Geörg, C., additional, Meißburger, B., additional, Buchhalter, I., additional, Augustin, M., additional, Aulitzky, W.E., additional, Hohenberger, P., additional, Kroiss, M., additional, Schirmacher, P., additional, Schlenk, R.F., additional, Keilholz, U., additional, Klauschen, F., additional, Folprecht, G., additional, Bauer, S., additional, Siveke, J.T., additional, Brandts, C.H., additional, Kindler, T., additional, Boerries, M., additional, Illert, A.L., additional, von Bubnoff, N., additional, Jost, P.J., additional, Metzeler, K.H., additional, Bitzer, M., additional, Schulze-Osthoff, K., additional, von Kalle, C., additional, Brors, B., additional, Stenzinger, A., additional, Weichert, W., additional, Hübschmann, D., additional, Fröhling, S., additional, Glimm, H., additional, Schröck, E., additional, and Klink, B., additional

Published
2022
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7. Analysis of B-cell Neoplasias by Spectral Karyotyping (SKY)

Author

Hilgenfeld, E., Padilla-Nash, H., Schröck, E., Ried, T., Compans, R. W., editor, Cooper, M., editor, Hogle, J. M., editor, Koprowski, H., editor, Ito, Y., editor, Melchers, F., editor, Oldstone, M., editor, Olsnes, S., editor, Potter, M., editor, Saedler, H., editor, Vogt, P. K., editor, Wagner, H., editor, Melchers, Fritz, editor, and Potter, Michael, editor

Published
1999
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9. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Author

te Paske, I.B.A.W., Garcia-Pelaez, J., Sommer, A.K., Matalonga, L., Starzynska, T., Jakubowska, A., Valle, L., Capella, G., Aretz, S., Holinski-Feder, E., Steinke-Lange, V., Laner, A., Schröck, E., Rump, A., Ligtenberg, M., Hoischen, A., Geverink, N., Evans, D.G., Tischkowitz, M., Laurie, S., van der Post, R.S., Lubinski, J., Oliveira, C., Hoogerbrugge, N., de Voer, R.M., Sommer, Anna K [0000-0001-6850-9290], Starzynska, Teresa [0000-0001-5573-2397], Jakubowska, Anna [0000-0002-5650-0501], Hoogerbrugge, Nicoline [0000-0003-2393-8141], de Voer, Richarda M [0000-0002-8222-0343], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Adult, Somatic cell, Class I Phosphatidylinositol 3-Kinases, Mutation, Missense, Stomach Neoplasms/genetics, Brief Communication, Whole Exome Sequencing, Germline, CDH1, 03 medical and health sciences, 0302 clinical medicine, Stomach Neoplasms, Exome Sequencing, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, medicine, Cancer genomics, Missense mutation, Humans, Young adult, Genetics (clinical), Class I Phosphatidylinositol 3-Kinases/genetics, biology, business.industry, Mosaicism, Cancer, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, Female, Hereditary diffuse gastric cancer, business, Gastric cancer
Abstract

Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification of novel HDGC predisposing genes. Under the collaborative environment of the SOLVE-RD consortium, re-analysis of whole-exome sequencing data from unresolved gastric cancer cases (n = 83) identified a mosaic missense variant in PIK3CA in a 25-year-old female with diffuse gastric cancer (DGC) without familial history for cancer. The variant, c.3140A>G p.(His1047Arg), a known cancer-related somatic hotspot, was present at a low variant allele frequency (18%) in leukocyte-derived DNA. Somatic variants in PIK3CA are usually associated with overgrowth, a phenotype that was not observed in this patient. This report highlights mosaicism as a potential, and understudied, mechanism in the etiology of DGC. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257. The research work at i3S/Ipatimup is supported by the European Regional Development Fund (ERDF) through COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020, and by Portuguese funds through FCT/ Ministério da Ciência, Tecnologia e Inovação in the framework of the project “Institute for Research and Innovation in Health Sciences” (POCI-01-0145-FEDER-007274) and Project Ref. POCI-01-0145-FEDER-030164. Data was reanalysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies.

Published
2021

12. Reply to Kratz et al.

Author

Frebourg, T. (Thierry), Lagercrantz, S.B. (Svetlana Bajalica), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, M. (Manuel), Tham, E. (Emma), Jan, L. (Lubinski), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Frebourg, T. (Thierry), Lagercrantz, S.B. (Svetlana Bajalica), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, M. (Manuel), Tham, E. (Emma), Jan, L. (Lubinski), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)

Published
2020
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13. Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

Author

Frebourg, T. (Thierry), Bajalica Lagercrantz, S. (Svetlana), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, P.J., Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Frebourg, T. (Thierry), Bajalica Lagercrantz, S. (Svetlana), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, P.J., Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)

Abstract

Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher canc

Published
2020
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14. Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Author

Tischkowitz, M. (Marc), Colas, C. (Chrystelle), Pouwels, S. (Sjaak), Hoogerbrugge, N. (Nicoline), Bisseling, T. (Tanya), Bubien, V. (Virginie), Caux, F. (Frederic), Chabbert-Buffet, N. (Nathalie), Da Mota Gomes, S. (Sophie), Gotthardt, M. (Martin), Kets, C.M. (Marleen), Lachlan, K. (Katherine), Links, T.P. (Thera), Longy, M. (Michel), Mann, R. (Ritse), Kool, L.S. (Leo Schultze), Semple, R.K. (Robert K.), Stock, I. (Ian), Vos, J.R. (Janet), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Frebourg, T. (Thierry), Houdayer, C. (Claude), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Oliveira, C. (Carla), Teixeira, P.J., Bajalica-Lagercrantz, S. (Svetlana), Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Tischkowitz, M. (Marc), Colas, C. (Chrystelle), Pouwels, S. (Sjaak), Hoogerbrugge, N. (Nicoline), Bisseling, T. (Tanya), Bubien, V. (Virginie), Caux, F. (Frederic), Chabbert-Buffet, N. (Nathalie), Da Mota Gomes, S. (Sophie), Gotthardt, M. (Martin), Kets, C.M. (Marleen), Lachlan, K. (Katherine), Links, T.P. (Thera), Longy, M. (Michel), Mann, R. (Ritse), Kool, L.S. (Leo Schultze), Semple, R.K. (Robert K.), Stock, I. (Ian), Vos, J.R. (Janet), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Frebourg, T. (Thierry), Houdayer, C. (Claude), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Oliveira, C. (Carla), Teixeira, P.J., Bajalica-Lagercrantz, S. (Svetlana), Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)

Abstract

PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.

Published
2020
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22. Clinical outcome of personalised treatment guided by genome and transcriptome sequencing in patients with neuroendocrine neoplasms: Updated results from the German NCT/DKTK MASTER trial

Author

Kreutzfeldt, S., primary, Apostolidis, L., additional, Oles, M., additional, Horak, P., additional, Heilig, C.E., additional, Heining, C., additional, Hutter, B., additional, Klink, B., additional, Lamping, M., additional, Uhrig, S., additional, Stenzinger, A., additional, Winkler, E.C., additional, Wiedenmann, B., additional, Jäger, D., additional, Brors, B., additional, Schröck, E., additional, Keilholz, U., additional, Pavel, M.E., additional, Glimm, H., additional, and Fröhling, S., additional

Published
2019
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23. Comprehensive genomic and transcriptomic profiling in advanced-stage cancers and rare malignancies: Clinical results from the MASTER trial of the German Cancer Consortium

Author

Horak, P., primary, Kreutzfeldt, S., additional, Mock, A., additional, Heining, C., additional, Heilig, C.E., additional, Möhrmann, L., additional, Uhrig, S., additional, Hübschmann, D., additional, Beck, K., additional, Richter, D., additional, Schlenk, R.F., additional, Klink, B., additional, Hutter, B., additional, Weichert, W., additional, Stenzinger, A., additional, Schröck, E., additional, Brors, B., additional, Glimm, H., additional, and Fröhling, S., additional

Published
2019
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26. Integrative genomic and transcriptomic analysis of leiomyosarcoma

Author

Chudasama, P. (Priya), Mughal, S.S. (Sadaf S.), Sanders, M.A. (Mathijs), Hübschmann, D. (Daniel), Chung, I. (Inn), Deeg, K.I. (Katharina I.), Wong, S.-H. (Siao-Han), Rabe, S. (Sophie), Hlevnjak, M. (Mario), Zapatka, M. (Marc), Ernst, A. (Aurélie), Kleinheinz, K. (Kortine), Schlesner, M. (Matthias), Sieverling, L. (Lina), Klink, B. (Barbara), Schröck, E. (Evelin), Hoogenboezem, R.M. (Remco), Kasper, B. (B.), Heilig, C.E. (Christoph E.), Egerer, G. (Gerlinde), Wolf, S. (Stephan), Kalle, C. (Christof) von, Eils, R. (Roland), Stenzinger, A. (Albrecht), Weichert, W. (Wilko), Glimm, H. (Hanno), Gröschel, S. (Stefan), Kopp, H.-G. (Hans-Georg), Omlor, G. (Georg), Lehner, B. (Burkhard), Bauer, S. (Sebastian), Schimmack, S. (Simon), Ulrich, A. (Alexis), Mechtersheimer, G. (Gunhild), Rippe, K. (Karsten), Brors, B. (Benedikt), Hutter, B. (Barbara), Renner, M. (Marcus), Hohenberger, P. (Peter), Scholl, C. (Claudia), Fröhling, S. (Stefan), Chudasama, P. (Priya), Mughal, S.S. (Sadaf S.), Sanders, M.A. (Mathijs), Hübschmann, D. (Daniel), Chung, I. (Inn), Deeg, K.I. (Katharina I.), Wong, S.-H. (Siao-Han), Rabe, S. (Sophie), Hlevnjak, M. (Mario), Zapatka, M. (Marc), Ernst, A. (Aurélie), Kleinheinz, K. (Kortine), Schlesner, M. (Matthias), Sieverling, L. (Lina), Klink, B. (Barbara), Schröck, E. (Evelin), Hoogenboezem, R.M. (Remco), Kasper, B. (B.), Heilig, C.E. (Christoph E.), Egerer, G. (Gerlinde), Wolf, S. (Stephan), Kalle, C. (Christof) von, Eils, R. (Roland), Stenzinger, A. (Albrecht), Weichert, W. (Wilko), Glimm, H. (Hanno), Gröschel, S. (Stefan), Kopp, H.-G. (Hans-Georg), Omlor, G. (Georg), Lehner, B. (Burkhard), Bauer, S. (Sebastian), Schimmack, S. (Simon), Ulrich, A. (Alexis), Mechtersheimer, G. (Gunhild), Rippe, K. (Karsten), Brors, B. (Benedikt), Hutter, B. (Barbara), Renner, M. (Marcus), Hohenberger, P. (Peter), Scholl, C. (Claudia), and Fröhling, S. (Stefan)

Abstract

Leiomyosarcoma (LMS) is an aggressive mesenchymal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically actionable genetic vulnerabilities, are largely unknown. Here we show, using whole-exome and transcriptome sequencing, that LMS tumors are characterized by substantial mutational heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations including chromothripsis, and frequent whole-genome duplication. Furthermore, we detect alternative telomere lengthening in 78% of cases and identify recurrent alterations in telomere maintenance genes such as ATRX, RBL2

Published
2018
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27. Prospective genome and transcriptome sequencing in advanced-stage neuroendocrine neoplasms

Author

Apostolidis, L., primary, Kreutzfeldt, S., additional, Oles, M., additional, Gieldon, L., additional, Heining, C., additional, Horak, P., additional, Hutter, B., additional, Fröhlich, M., additional, Klink, B., additional, Lamping, M., additional, Uhrig, S., additional, Stenzinger, A., additional, Winkler, E.C., additional, Wiedenmann, B., additional, Jäger, D., additional, Schröck, E., additional, Keilholz, U., additional, Pavel, M.E., additional, Glimm, H., additional, and Fröhling, S., additional

Published
2018
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29. Truncating variants in DNA-repair genes and their effect on AAO of hereditary breast cancer

Author

Sepahi, I, additional, Faust, U, additional, Sturm, M, additional, Bosse, K, additional, Kehrer, M, additional, Heinrich, T, additional, Grundman-Hauser, K, additional, Bauer, P, additional, Ossowski, S, additional, Susak, H, additional, Bick, U, additional, Schröck, E, additional, Niederacher, D, additional, Auber, B, additional, Sutter, C, additional, Arnold, N, additional, Hahnen, E, additional, Dworniczak, B, additional, Wang-Gorke, S, additional, Gehrig, A, additional, Weber, BHF, additional, Engel, C, additional, Lemke, J, additional, Huu Phuc Nguyen, H, additional, Riess, O, additional, and Schroeder, C, additional

Published
2018
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31. An Epigenetic Reprogramming Strategy to Resensitize Radioresistant Prostate Cancer Cells

Author

Peitzsch, C., Cojoc, M., Hein, L., Kurth, I., Mäbert, K., Trautmann, F., Klink, B., Schröck, E., Wirth, M. P., Krause, M., Stakhovsky, E. A., Telegeev, G. D., Novotny, V., Toma, M., Muders, M., Baretton, G. B., Frame, F. M., Maitland, N. J., Baumann, M., and Dubrovska, A.

Abstract

Radiotherapy is a mainstay of curative prostate cancer treatment, but risks of recurrence after treatment remain significant in locally advanced disease. Given that tumor relapse can be attributed to a population of cancer stem cells (CSC) that survives radiotherapy, analysis of this cell population might illuminate tactics to personalize treatment. However, this direction remains challenging given the plastic nature of prostate cancers following treatment. We show here that irradiating prostate cancer cells stimulates a durable upregulation of stem cell markers that epigenetically reprogram these cells. In both tumorigenic and radioresistant cell populations, a phenotypic switch occurred during a course of radiotherapy that was associated with stable genetic and epigenetic changes. Specifically, we found that irradiation triggered histone H3 methylation at the promoter of the CSC marker aldehyde dehydrogenase 1A1 (ALDH1A1), stimulating its gene transcription. Inhibiting this methylation event triggered apoptosis, promoted radiosensitization, and hindered tumorigenicity of radioresistant prostate cancer cells. Overall, our results suggest that epigenetic therapies may restore the cytotoxic effects of irradiation in radioresistant CSC populations. Cancer Res; 76(9); 2637-51. ©2016 AACR.

Published
2016

32. ATM-Defizienz führt zu genomischer Instabilität im duktalen Pankreaskarzinom und sensibilisiert für neue Therapieoptionen

Author

Perkhofer, L, additional, Schmitt, A, additional, Romero, M, additional, Ihle, M, additional, Hampp, S, additional, Ruess, DA, additional, Hessmann, E, additional, Russell, R, additional, Lechel, A, additional, Azoitei, N, additional, Lin, Q, additional, Liebau, S, additional, Hohwieler, M, additional, Bohnenberger, H, additional, Lesina, M, additional, Algül, H, additional, Gieldon, L, additional, Schröck, E, additional, Gaedcke, J, additional, Wagner, M, additional, Wiessmüller, L, additional, Sipos, B, additional, Seufferlein, T, additional, Reinhardt, HC, additional, Frappart, PO, additional, and Kleger, A, additional

Published
2017
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37. 18P - Clinical outcome of personalised treatment guided by genome and transcriptome sequencing in patients with neuroendocrine neoplasms: Updated results from the German NCT/DKTK MASTER trial

Author

Kreutzfeldt, S., Apostolidis, L., Oles, M., Horak, P., Heilig, C.E., Heining, C., Hutter, B., Klink, B., Lamping, M., Uhrig, S., Stenzinger, A., Winkler, E.C., Wiedenmann, B., Jäger, D., Brors, B., Schröck, E., Keilholz, U., Pavel, M.E., Glimm, H., and Fröhling, S.

Published
2019
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42. Selection of a highly invasive neuroblastoma cell population through long-term human cytomegalovirus infection

Author

Michaelis, M., Barth, S., Breitling, R., Bruch, J., Steinberger, D., Rothweiler, F., Hackmann, K., Schröck, E., Doerr, H.W., Griffin, D.K., Cinatl, J., Cinatl Jr., J., Michaelis, M., Barth, S., Breitling, R., Bruch, J., Steinberger, D., Rothweiler, F., Hackmann, K., Schröck, E., Doerr, H.W., Griffin, D.K., Cinatl, J., and Cinatl Jr., J.

Abstract

The human cytomegalovirus (HCMV) is suspected to increase tumour malignancy by infection of cancer and/or stroma cells (oncomodulation). So far, oncomodulatory mechanisms have been attributed to the presence of HCMV and direct action of its gene products on cancer cells. Here, we investigated whether the prolonged presence of HCMV can result in the irreversible selection of a cancer cell population with increased malignancy. The neuroblastoma cell line UKF-NB-4 was long-term (200 passages) infected with the HCMV strain Hi91 (UKF-NB-4Hi) before virus eradication using ganciclovir (UKF-NB-4HiGCV). Global gene expression profiling of UKF-NB-4, UKF-NB-4Hi and UKF-NB-4HiGCV cells and subsequent bioinformatic signal transduction pathway analysis revealed clear differences between UKF-NB-4 and UKF-NB-4Hi, as well as between UKF-NB-4 and UKF-NB-4HiGCV cells, but only minor differences between UKF-NB-4Hi and UKF-NB-4HiGCV cells. Investigation of the expression of a subset of five genes in different chronically HCMV-infected cell lines before and after virus eradication suggested that long-term HCMV infection reproducibly causes specific changes. Array comparative genomic hybridisation showed virtually the same genomic differences for the comparisons UKF-NB-4Hi/UKF-NB-4 and UKF-NB-4HiGCV/UKF-NB-4. UKF-NB-4Hi cells are characterised by an increased invasive potential compared with UKF-NB-4 cells. This phenotype was completely retained in UKF-NB-4HiGCV cells. Moreover, there was a substantial overlap in the signal transduction pathways that differed significantly between UKF-NB-4Hi/UKF-NB-4HiGCV and UKF-NB-4 cells and those differentially regulated between tumour tissues from neuroblastoma patients with favourable or poor outcome. In conclusion, we present the first experimental evidence that long-term HCMV infection can result in the selection of tumour cell populations with enhanced malignancy.

Published
2012

43. Multiple putative oncogenes at the chromosome 20q amplicon contribute to colorectal adenoma to carcinoma progression

Author

Pinto Morais de Carvalho, B., Postma, C., Mongera, S., Hopmans, E., Diskin, S, van de Wiel, M.A., van Crieckinge, W, Thas, O, Matthaï, A, Cuesta valentin, M.A., Terhaar sive Droste, J.S., Craanen, M, Schröck, E, Ijlstra, B., Pinto Morais de Carvalho, B., Postma, C., Mongera, S., Hopmans, E., Diskin, S, van de Wiel, M.A., van Crieckinge, W, Thas, O, Matthaï, A, Cuesta valentin, M.A., Terhaar sive Droste, J.S., Craanen, M, Schröck, E, and Ijlstra, B.

Abstract

Objective: This study aimed to identify the oncogenes at 20q involved in colorectal adenoma to carcinoma progression by measuring the effect of 20q gain on mRNA expression of genes in this amplicon. Methods: Segmentation of DNA copy number changes on 20q was performed by array CGH (comparative genomic hybridisation) in 34 non-progressed colorectal adenomas, 41 progressed adenomas (ie, adenomas that present a focus of cancer) and 33 adenocarcinomas. Moreover, a robust analysis of altered expression of genes in these segments was performed by microarray analysis in 37 adenomas and 31 adenocarcinomas. Protein expression was evaluated by immunohistochemistry on tissue microarrays. Results: The genes C20orf24, AURKA, RNPC1, TH1L, ADRM1, C20orf20 and TCFL5, mapping at 20q, were significantly overexpressed in carcinomas compared with adenomas as a consequence of copy number gain of 20q. Conclusion: This approach revealed C20orf24, AURKA, RNPC1, TH1L, ADRM1, C20orf20 and TCFL5 genes to be important in chromosomal instability-related adenoma to carcinoma progression. These genes therefore may serve as highly specific biomarkers for colorectal cancer with potential clinical applications.

Published
2009
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45. Prädiktiver Wert von TNBC und Manchester-Score für die Wahrscheinlichkeit einer BRCA-Mutation: Ergebnisse des Deutschen Konsortiums Familiärer Brust- und Eierstockkrebs

Author

Kast, K, primary, Schmutzler, RK, additional, Arnold, N, additional, Bartram, C, additional, Bick, U, additional, Briest, S, additional, Distler, W, additional, Grimm, T, additional, Kiechle, M, additional, Kreienberg, R, additional, Nestlé-Krämling, C, additional, Schlegelberger, B, additional, Schröck, E, additional, Wieacker, P, additional, Meindl, A, additional, and Engel, C, additional

Published
2011
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49. Advanced-stage cervical carcinomas are defined by a recurrent pattern of chromosomal aberrations revealing high genetic instability and a consistent gain of chromosome arm 3q

Author

Heselmeyer-Haddad, K., Macville, M.V.E., Schröck, E., Blegen, H., Hellström, A.C., Shah, K., Auer, G., Ried, T., Heselmeyer-Haddad, K., Macville, M.V.E., Schröck, E., Blegen, H., Hellström, A.C., Shah, K., Auer, G., and Ried, T.

Abstract

Contains fulltext : 24413___.PDF (publisher's version ) (Open Access)

Published
1997

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