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291 results on '"Ripperger, Tim"'

2. Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

Author

Homan, Claire C., Drazer, Michael W., Yu, Kai, Lawrence, David M., Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew J., McNeely, Kelsey E., Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah L., Cheah, Jesse, Armstrong, Mark, Wang, Paul, Bödör, Csaba, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Kim, Erika, Sood, Raman, Hsu, Amy P., Holland, Steven M., Phillips, Kerry, Poplawski, Nicola K., Babic, Milena, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D., Cooney, Julian, Susman, Rachel, Fox, Lucy C., Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Phipson, Belinda, Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Liu, Paul, Godley, Lucy A., and Brown, Anna L.

Published
2023
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4. European standard clinical practice – Key issues for the medical care of individuals with familial leukemia

Author

Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C., Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M., Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, and Ripperger, Tim

Published
2023
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5. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Author

Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A.J., Evans, D. Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A., Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoît, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J., Kratz, Christian P., Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Wimmer, Katharina, Burn, John, Jackson, Michael S., and Santibanez-Koref, Mauro

Published
2023
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7. iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia

Author

Dannenmann, Benjamin, Klimiankou, Maksim, Oswald, Benedikt, Solovyeva, Anna, Mardan, Jehan, Nasri, Masoud, Ritter, Malte, Zahabi, Azadeh, Arreba-Tutusaus, Patricia, Mir, Perihan, Stein, Frederic, Kandabarau, Siarhei, Lachmann, Nico, Moritz, Thomas, Morishima, Tatsuya, Konantz, Martina, Lengerke, Claudia, Ripperger, Tim, Steinemann, Doris, Erlacher, Miriam, Niemeyer, Charlotte M., Zeidler, Cornelia, Welte, Karl, and Skokowa, Julia

Published
2021
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8. Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

Author

Hettmer, Simone, Dachy, Guillaume, Seitz, Guido, Agaimy, Abbas, Duncan, Catriona, Jongmans, Marjolijn, Hirsch, Steffen, Kventsel, Iris, Kordes, Uwe, de Krijger, Ronald R., Metzler, Markus, Michaeli, Orli, Nemes, Karolina, Poluha, Anna, Ripperger, Tim, Russo, Alexandra, Smetsers, Stephanie, Sparber-Sauer, Monika, Stutz, Eveline, Bourdeaut, Franck, Kratz, Christian P., and Demoulin, Jean-Baptiste

Published
2021
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10. Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome

Author

Winter, Greta, Kirschner-Schwabe, Renate, Groeneveld-Krentz, Stefanie, Escherich, Gabriele, Möricke, Anja, von Stackelberg, Arend, Stanulla, Martin, Bailey, Simon, Richter, Lisa, Steinemann, Doris, Ripperger, Tim, Escudero, Adela, Farah, Roula, Lohi, Olli, Wadt, Karin, Jongmans, Marjolijn, van Engelen, Nienke, Eckert, Cornelia, and Kratz, Christian Peter

Published
2021
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13. Genetic counselling legislation and practice in cancer in EU Member States

Author

McCrary, J. Matt, Van Valckenborgh, Els, Poirel, Hélène A., de Putter, Robin, van Rooij, Jeroen, Horgan, Denis, Dierks, Marie Luise, Antonova, Olga, Brunet, Joan, Chirita-Emandi, Adela, Colas, Chrystelle, Dalmas, Miriam, Ehrencrona, Hans, Grima, Claire, Janavičius, Ramūnas, Klink, Barbara, Koczok, Katalin, Krajc, Mateja, Lace, Baiba, Leitsalu, Liis, Mistrik, Martin, Paneque, Milena, Primorac, Dragan, Roetzer, Katharina M., Ronez, Joelle, Slámová, Lucie, Spanou, Elena, Stamatopoulos, Kostas, Stoklosa, Tomasz, Strang-Karlsson, Sonja, Szakszon, Katalin, Szczałuba, Krzysztof, Turner, Jacqueline, van Dooren, Marieke F., van Zelst-Stams, Wendy A.G., Vassallo, Loredana Maria, Wadt, Karin A.W., Žigman, Tamara, Ripperger, Tim, Genuardi, Maurizio, Van den Bulcke, Marc, Bergmann, Anke Katharina, McCrary, J. Matt, Van Valckenborgh, Els, Poirel, Hélène A., de Putter, Robin, van Rooij, Jeroen, Horgan, Denis, Dierks, Marie Luise, Antonova, Olga, Brunet, Joan, Chirita-Emandi, Adela, Colas, Chrystelle, Dalmas, Miriam, Ehrencrona, Hans, Grima, Claire, Janavičius, Ramūnas, Klink, Barbara, Koczok, Katalin, Krajc, Mateja, Lace, Baiba, Leitsalu, Liis, Mistrik, Martin, Paneque, Milena, Primorac, Dragan, Roetzer, Katharina M., Ronez, Joelle, Slámová, Lucie, Spanou, Elena, Stamatopoulos, Kostas, Stoklosa, Tomasz, Strang-Karlsson, Sonja, Szakszon, Katalin, Szczałuba, Krzysztof, Turner, Jacqueline, van Dooren, Marieke F., van Zelst-Stams, Wendy A.G., Vassallo, Loredana Maria, Wadt, Karin A.W., Žigman, Tamara, Ripperger, Tim, Genuardi, Maurizio, Van den Bulcke, Marc, and Bergmann, Anke Katharina

Abstract

Background: Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration of new technologies which profile these alterations requires timely, equitable and high-quality genetic counselling to facilitate accurate diagnoses and informed decision-making by patients and their families in preventive and clinical settings. This article aims to provide an overview of genetic counselling legislation and practice across European Union (EU) Member States to serve as a foundation for future European recommendations and action. Methods: National legislative databases of all 27 Member States were searched using terms relevant to genetic counselling, translated as appropriate. Interviews with relevant experts from each Member State were conducted to validate legislative search results and provide detailed insights into genetic counselling practice in each country. Results: Genetic counselling is included in national legislative documents of 22 of 27 Member States, with substantial variation in legal mechanisms and prescribed details (i.e. the ‘who, what, when and where’ of counselling). Practice is similarly varied. Workforce capacity (25 of 27 Member States) and genetic literacy (all Member States) were common reported barriers. Recognition and/or better integration of genetic counsellors and updated legislation and were most commonly noted as the ‘most important change’ which would improve practice. Conclusions: This review highlights substantial variability in genetic counselling across EU Member States, as well as common barriers notwithstanding this variation. Future recommendations and action should focus on addressing literacy and capacity challenges through legislative, regulatory and/or strategic approaches at EU, national, regional and/or local levels.

Published
2024

14. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Author

Suerink, Manon, Rodríguez-Girondo, Mar, van der Klift, Heleen M., Colas, Chrystelle, Brugieres, Laurence, Lavoine, Noémie, Jongmans, Marjolijn, Munar, Gabriel Capellá, Evans, D. Gareth, Farrell, Michael P., Genuardi, Maurizio, Goldberg, Yael, Gomez-Garcia, Encarna, Heinimann, Karl, Hoell, Jessica I., Aretz, Stefan, Jasperson, Kory W., Kedar, Inbal, Modi, Mitul B., Nikolaev, Sergey, van Os, Theo A.M., Ripperger, Tim, Rueda, Daniel, Senter, Leigha, Sjursen, Wenche, Sunde, Lone, Therkildsen, Christina, Tibiletti, Maria G., Trainer, Alison H., Vos, Yvonne J., Wagner, Anja, Winship, Ingrid, Wimmer, Katharina, Zimmermann, Stefanie Y., Vasen, Hans F., van Asperen, Christi J., Houwing-Duistermaat, Jeanine J., ten Broeke, Sanne W., and Nielsen, Maartje

Published
2019
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17. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Author

Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C.C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, and Bryceson, Yenan T.

Published
2017
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18. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Author

Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna, Bewicke-Copley, Findlay, Armes, Hannah, Barnett, Michael, Bloor, Adrian, Bödör, Csaba, Bowen, David, Fenaux, Pierre, Green, Andrew, Hallahan, Andrew, Hjorth-Hansen, Henrik, Hossain, Upal, Killick, Sally, Lawson, Sarah, Layton, Mark, Male, Alison M., Marsh, Judith, Mehta, Priyanka, Mous, Rogier, Nomdedéu, Josep F., Owen, Carolyn, Pavlu, Jiri, Payne, Elspeth M., Protheroe, Rachel E., Preudhomme, Claude, Pujol-Moix, Nuria, Renneville, Aline, Russell, Nigel, Saggar, Anand, Sciuccati, Gabriela, Taussig, David, Toze, Cynthia L., Uyttebroeck, Anne, Vandenberghe, Peter, Schlegelberger, Brigitte, Ripperger, Tim, Steinemann, Doris, Wu, John, Mason, Joanne, Page, Paula, Akiki, Susanna, Reay, Kim, Cavenagh, Jamie D., Plagnol, Vincent, Caceres, Javier F., Fitzgibbon, Jude, and Dokal, Inderjeet

Published
2020
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24. European standard clinical practice - Key issues for the medical care of individuals with familial leukemia

Author

Förster, A, Davenport, C, Duployez, N, Erlacher, M, Ferster, A, Fitzgibbon, J, Göhring, G, Hasle, H, Jongmans, M, Kolenova, A, Kronnie, G, Lammens, T, Mecucci, C, Mlynarski, W, Niemeyer, C, Sole, F, Szczepanski, T, Waanders, E, Biondi, A, Wlodarski, M, Schlegelberger, B, Ripperger, T, Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C, Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M, Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, Ripperger, Tim, Förster, A, Davenport, C, Duployez, N, Erlacher, M, Ferster, A, Fitzgibbon, J, Göhring, G, Hasle, H, Jongmans, M, Kolenova, A, Kronnie, G, Lammens, T, Mecucci, C, Mlynarski, W, Niemeyer, C, Sole, F, Szczepanski, T, Waanders, E, Biondi, A, Wlodarski, M, Schlegelberger, B, Ripperger, T, Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C, Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M, Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, and Ripperger, Tim

Abstract

Although hematologic malignancies (HM) are no longer considered exclusively sporadic, additional awareness of familial cases has yet to be created. Individuals carrying a (likely) pathogenic germline variant (e.g., in ETV6, GATA2, SAMD9, SAMD9L, or RUNX1) are at an increased risk for developing HM. Given the clinical and psychological impact associated with the diagnosis of a genetic predisposition to HM, it is of utmost importance to provide high-quality, standardized patient care. To address these issues and harmonize care across Europe, the Familial Leukemia Subnetwork within the ERN PaedCan has been assigned to draft an European Standard Clinical Practice (ESCP) document reflecting current best practices for pediatric patients and (healthy) relatives with (suspected) familial leukemia. The group was supported by members of the German network for rare diseases MyPred, of the Host Genome Working Group of SIOPE, and of the COST action LEGEND. The ESCP on familial leukemia is proposed by an interdisciplinary team of experts including hematologists, oncologists, and human geneticists. It is intended to provide general recommendations in areas where disease-specific recommendations do not yet exist. Here, we describe key issues for the medical care of familial leukemia that shall pave the way for a future consensus guideline: (i) identification of individuals with or suggestive of familial leukemia, (ii) genetic analysis and variant interpretation, (iii) genetic counseling and patient education, and (iv) surveillance and (psychological) support. To address the question on how to proceed with individuals suggestive of or at risk of familial leukemia, we developed an algorithm covering four different, partially linked clinical scenarios, and additionally a decision tree to guide clinicians in their considerations regarding familial leukemia in minors with HM. Our recommendations cover, not only patients but also relatives that both should have access to adequate medical

Published
2023

25. Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer

Author

Rhiem, Kerstin, Zachariae, Silke, Waha, Anke, Grill, Sabine, Hester, Anna, Golatta, Michael; https://orcid.org/0000-0002-2605-0060, van Mackelenbergh, Marion, Fehm, Tanja, Schlaiß, Tanja, Ripperger, Tim; https://orcid.org/0000-0001-6470-8612, Ledig, Susanne, Meisel, Cornelia, Speiser, Dorothee; https://orcid.org/0000-0002-6447-629X, Veselinovic, Kristina, Schröder, Christopher, Witzel, Isabell; https://orcid.org/0000-0002-8734-4521, Gallwas, Julia, Weber, Bernhard H F; https://orcid.org/0000-0002-8808-7723, Solbach, Christine; https://orcid.org/0000-0001-8284-3199, Aktas, Bariyhe, Hahnen, Eric, Engel, Christoph; https://orcid.org/0000-0002-7247-282X, Schmutzler, Rita, Rhiem, Kerstin, Zachariae, Silke, Waha, Anke, Grill, Sabine, Hester, Anna, Golatta, Michael; https://orcid.org/0000-0002-2605-0060, van Mackelenbergh, Marion, Fehm, Tanja, Schlaiß, Tanja, Ripperger, Tim; https://orcid.org/0000-0001-6470-8612, Ledig, Susanne, Meisel, Cornelia, Speiser, Dorothee; https://orcid.org/0000-0002-6447-629X, Veselinovic, Kristina, Schröder, Christopher, Witzel, Isabell; https://orcid.org/0000-0002-8734-4521, Gallwas, Julia, Weber, Bernhard H F; https://orcid.org/0000-0002-8808-7723, Solbach, Christine; https://orcid.org/0000-0001-8284-3199, Aktas, Bariyhe, Hahnen, Eric, Engel, Christoph; https://orcid.org/0000-0002-7247-282X, and Schmutzler, Rita

Abstract

Introduction: International guidelines recommend genetic testing for women with familial breast cancer at an expected prevalence of pathogenic germline variants (PVs) of at least 10%. In a study sample of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), we have previously shown that women with TNBC diagnosed before the age of 50 years but without a family history of breast or ovarian cancer (sTNBC) meet this criterion. The present study investigates the PV prevalence in BRCA1, BRCA2, and nine additional cancer predisposition genes in an extended sTNBC study sample including a cohort of women with a later age at sTNBC diagnosis. Patients and Methods: In 1,600 women with sTNBC (median age at diagnosis: 41 years, range 19–78 years), we investigated the association between age at diagnosis and PV occurrence in cancer predisposition genes using logistic regression. Results: 260 sTNBC patients (16.2%) were found to have a PV in cancer predisposition genes (BRCA1: n = 170 [10.6%]; BRCA2: n = 46 [2.9%], other: n = 44 [2.8%]). The PV prevalence in women diagnosed between 50 and 59 years (n = 194) was 11.3% (22/194). Logistic regression showed a significant increase in PV prevalence with decreasing age at diagnosis (OR 1.41 per 10 years younger age at diagnosis; 95% confidence interval: 1.21–1.65; p < 0.001). The PV prevalence predicted by the model was above 10% for diagnoses before the age of 56.8 years. Conclusion: Based on the data presented, we recommend genetic testing by gene panel analysis for sTNBC patients diagnosed before the age of 60 years. Due to the still uncertain estimate for women with sTNBC diagnosed above the age of 60 years, further studies are needed.

Published
2023

26. A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients

Author

Klein, Janin, primary, Allister, Aldrige B., additional, Schmidt, Gunnar, additional, Otto, Annette, additional, Heinecke, Kai, additional, Bax-Knoche, Jördis, additional, Beger, Carmela, additional, Becker, Sarah, additional, Bartels, Stephan, additional, Ripperger, Tim, additional, Bohne, Jens, additional, Dörk, Thilo, additional, Schlegelberger, Brigitte, additional, Hofmann, Winfried, additional, and Steinemann, Doris, additional

Published
2023
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27. Reply to Li and colleagues

Author

Kratz, Christian P, primary, Smirnov, Dmitrii, additional, Autry, Robert, additional, Jäger, Natalie, additional, Waszak, Sebastian M, additional, Großhennig, Anika, additional, Berutti, Riccardo, additional, Wendorff, Mareike, additional, Hainaut, Pierre, additional, Pfister, Stefan M, additional, Prokisch, Holger, additional, Ripperger, Tim, additional, and Malkin, David, additional

Published
2023
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32. Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer

Author

Rhiem, Kerstin, primary, Zachariae, Silke, additional, Waha, Anke, additional, Grill, Sabine, additional, Hester, Anna, additional, Golatta, Michael, additional, van Mackelenbergh, Marion, additional, Fehm, Tanja, additional, Schlaiß, Tanja, additional, Ripperger, Tim, additional, Ledig, Susanne, additional, Meisel, Cornelia, additional, Speiser, Dorothee, additional, Veselinovic, Kristina, additional, Schröder, Christopher, additional, Witzel, Isabell, additional, Gallwas, Julia, additional, Weber, Bernhard H.F., additional, Solbach, Christine, additional, Aktas, Bariyhe, additional, Hahnen, Eric, additional, Engel, Christoph, additional, and Schmutzler, Rita, additional

Published
2023
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33. Reply to Evans and Woodward

Author

Kratz, Christian P, primary, Smirnov, Dmitrii, additional, Autry, Robert, additional, Jäger, Natalie, additional, Waszak, Sebastian M, additional, Großhennig, Anika, additional, Berutti, Riccardo, additional, Wendorff, Mareike, additional, Hainaut, Pierre, additional, Pfister, Stefan M, additional, Prokisch, Holger, additional, Ripperger, Tim, additional, and Malkin, David, additional

Published
2022
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35. Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1, GATA2 and DDX41

Author

Brown, Anna L., primary, Homan, Claire, additional, Drazer, Michael W., additional, Yu, Kai, additional, Lawrence, David, additional, Feng, Jinghua, additional, Arriola-Martinez, Luis, additional, Pozsgai, Matthew, additional, McNeely, Kelsey, additional, Ha, Thuong, additional, Venugopal, Parvathy, additional, Arts, Peer, additional, King-Smith, Sarah, additional, Cheah, Jesse JC, additional, Armstrong, Mark, additional, Bödör, Csaba, additional, Wang, Paul, additional, Cantor, Alan B., additional, Cazzola, Mario, additional, Degelman, Erin, additional, DiNardo, Courtney D., additional, Duployez, Nicolas, additional, Favier, Remi, additional, Fröhling, Stefan, additional, Rio-Machin, Ana, additional, Klco, Jeffery M., additional, Krämer, Alwin, additional, Kurokawa, Mineo, additional, Lee, Joanne, additional, Malcovati, Luca, additional, Morgan, Neil V, additional, Natsoulis, Georges, additional, Owen, Carolyn, additional, Patel, Keyur P., additional, Preudhomme, Claude, additional, Raslova, Hana, additional, Rienhoff, Hugh Young, additional, Ripperger, Tim, additional, Schulte, Rachael, additional, Tawana, Kiran, additional, Velloso, Elvira Deolinda Rodrigues Pereira, additional, Yan, Benedict, additional, Sood, Raman, additional, Hsu, Amy, additional, Holland, Steven M., additional, Phillips, Kerry, additional, Poplawski, Nicola, additional, Babic, Milena, additional, Kwon Kim, Erika M, additional, Wei, Andrew H., additional, Forsyth, Cecily, additional, Mar Fan, Helen, additional, Lewis, Ian D, additional, Cooney, Julian, additional, Susman, Rachel, additional, Fox, Lucy C, additional, Blombery, Piers, additional, Singhal, Deepak, additional, Hiwase, Devendra, additional, Schreiber, Andreas W, additional, Hahn, Christopher N, additional, Scott, Hamish S, additional, Liu, Paul P., additional, and Godley, Lucy A., additional

Published
2022
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38. Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer

Author

Kratz, Christian P, primary, Smirnov, Dmitrii, additional, Autry, Robert, additional, Jäger, Natalie, additional, Waszak, Sebastian M, additional, Großhennig, Anika, additional, Berutti, Riccardo, additional, Wendorff, Mareike, additional, Hainaut, Pierre, additional, Pfister, Stefan M, additional, Prokisch, Holger, additional, Ripperger, Tim, additional, and Malkin, David, additional

Published
2022
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39. Ausgewählte Biographien

Author

Lohff, Brigitte, Ripperger, Tim, Ganten, Detlev, editor, Ruckpaul, Klaus, editor, Schlegelberger, Brigitte, editor, and Fonatsch, Christa, editor

Published
2003
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40. Perception and management of cancer predisposition in pediatric cancer centers: A European‐wide questionnaire‐based survey.

Author

Lazic, Jelena, Haas, Oskar A, Özbek, Ugur, Ripperger, Tim, Byrjalsen, Anna, te Kronnie, Geertruij, Sayitoğlu, Muge, Ng, Ozden Hatirnaz, Agaoglu, Nihat Bugra, Erbilgin, Yucel, Senturk, Gizem, Khodzhoev, Khusan, Sudutan, Tugce, Altıner, Sule, Ozdemir, Gul Nihal, Demirsoy, Ugur, Yilmaz, Ceren Damla, Ruml, Jelena, Yalcin, Koray, and Ili, Ezgi Gökpinar

Published
2023
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43. Validation and clinical application of transactivation assays forRUNX1variant classification

Author

Decker, Melanie, primary, Agarwal, Anupriya, additional, Benneche, Andreas, additional, Churpek, Jane, additional, Duployez, Nicolas, additional, Duvall, Adam, additional, Ernst, Martijn P. T., additional, Förster, Alisa, additional, Høberg-Vetti, Hildegunn, additional, Hofmann, Inga, additional, Nash, Michelle, additional, Raaijmakers, Marc H. G. P., additional, Tvedt, Tor H. A., additional, Vlachos, Adrianna, additional, Schlegelberger, Brigitte, additional, Illig, Thomas, additional, and Ripperger, Tim, additional

Published
2022
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46. Paediatric Cancer Predisposition Documentation Tool – Standardized Reporting Form for Children and Adolescents With Suspected Cancer Predisposition Syndrome

Author

Brecht, Ines B., primary, Hoyer, Juliane, additional, Ripperger, Tim, additional, Karow, Axel, additional, Borkhardt, Arndt, additional, Brozou, Triantafyllia, additional, Cazzaniga, Gianni, additional, Ebinger, Martin, additional, Farah, Roula, additional, Obregón, Susana García, additional, Hauer, Julia, additional, Kamawal, Ariana, additional, Kronnie, Geertruij te, additional, Kuhlen, Michaela, additional, Lazic, Jelena, additional, Lohi, Olli, additional, Özbek, Ugur, additional, Pérez-Martínez, Antonio, additional, Rieß, Olaf, additional, Schneider, Dominik T., additional, Schrappe, Martin, additional, Schroeder, Christopher, additional, Zimmermann, Stefanie, additional, Thiel, Christian T., additional, Schroeck, Evelin, additional, Reis, André, additional, Schlegelberger, Brigitte, additional, and Metzler, Markus, additional

Published
2021
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47. Plasma Metabolome Signature Indicative of Germline Status Independent of Cancer Incidence

Author

Penkert, Judith, Märtens, Andre, Seifert, Martin, Auber, Bernd, Derlin, Katja, Hille-Betz, Ursula, Hörmann, Philipp, Klopp, Norman, Prokein, Jana, Schlicker, Lisa, Wacker, Frank, Wallaschek, Hannah, Schlegelberger, Brigitte, Hiller, Karsten, Ripperger, Tim, Illig, Thomas, and HZI,Helmholtz-Zentrum für Infektionsforschung GmbH, Inhoffenstr. 7,38124 Braunschweig, Germany.

Subjects
plasma metabolome, lactate, breast cancer, energy metabolism, BRCA1 germline mutation, HIF1 alpha, NAD+ balance, aerobic glycolysis
Abstract

Individuals carrying a pathogenic germline variant in the breast cancer predisposition gene BRCA1 (gBRCA1+) are prone to developing breast cancer. Apart from its well-known role in DNA repair, BRCA1 has been shown to powerfully impact cellular metabolism. While, in general, metabolic reprogramming was named a hallmark of cancer, disrupted metabolism has also been suggested to drive cancer cell evolution and malignant transformation by critically altering microenvironmental tissue integrity. Systemic metabolic effects induced by germline variants in cancer predisposition genes have been demonstrated before. Whether or not systemic metabolic alterations exist in gBRCA1+ individuals independent of cancer incidence has not been investigated yet. We therefore profiled the plasma metabolome of 72 gBRCA1+ women and 72 age-matched female controls, none of whom (carriers and non-carriers) had a prior cancer diagnosis and all of whom were cancer-free during the follow-up period. We detected one single metabolite, pyruvate, and two metabolite ratios involving pyruvate, lactate, and a metabolite of yet unknown structure, significantly altered between the two cohorts. A machine learning signature of metabolite ratios was able to correctly distinguish between gBRCA1+ and controls in ~82%. The results of this study point to innate systemic metabolic differences in gBRCA1+ women independent of cancer incidence and raise the question as to whether or not constitutional alterations in energy metabolism may be involved in the etiology of BRCA1-associated breast cancer.

Published
2021

48. The genetic message of a sudden, unexpected death due to thoracic aortic dissection

Author

Ripperger, Tim, Troger, Hans Dieter, and Schmidtke, Jorg

Subjects
Sudden death -- Causes of, Aortic aneurysms -- Research, Marfan syndrome -- Research, Law
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.forsciint.2009.01.020 Byline: Tim Ripperger (a), Hans Dieter Troger (c), Jorg Schmidtke (b) Keywords: Thoracic aortic aneurysms/dissections; Marfan syndrome; Loeys-Dietz syndrome Abstract: Thoracic aortic aneurysms are associated with sudden, unexpected death due to dissection and/or rupture. In such cases, the latent, preceding state of aortic dilatation has often gone undiagnosed. As a consequence of the sudden unresolved death, medico-legal autopsy requested by a public prosecutor will be the consequence to establish the cause and manner of death. Usually, autopsy records do not include relevant information for differential diagnosis of heritable syndromic and non-syndromic diseases associated with thoracic aortic aneurysms/dissections (TAAD), including e.g. Marfan syndrome, Loeys-Dietz syndrome, and isolated thoracic aortic aneurysms/dissection. However, for at-risk relatives of the deceased, it could be of great benefit to be alerted to the potential heritable aetiology, because early diagnosis of the latent stage of the disease would allow preventive management. Such attempts, including recommendations to seek genetic counselling, are nevertheless rarely made in the context of medico-legal autopsies, in which primarily the legal aspects are considered. We report here on three cases to underline the practical relevance of (i) documentation of relevant information for differential diagnosis of TAAD-associated disorders, (ii) storage of unfixed tissue samples for subsequent molecular genetic testing, and most importantly (iii) the information of relatives at risk. In view of the general ethical principal of nonmaleficience, direct or indirect contact with family members of victims of possible heritable forms of TAAD should be established as a standard of care, also in the medico-legal setting. Author Affiliation: (a) Institute of Cell and Molecular Pathology, Hannover Medical School, Carl Neuberg Street 1, 30625 Hannover, Germany (b) Institute of Human Genetics, Hannover Medical School, Carl Neuberg Street 1, 30625 Hannover, Germany (c) Institute of Legal Medicine, Hannover Medical School, Carl Neuberg Street 1, 30625 Hannover, Germany Article History: Received 29 October 2008; Revised 23 December 2008; Accepted 29 January 2009

Published
2009

49. The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

Author

Homan, Claire C., primary, King-Smith, Sarah L., additional, Lawrence, David M., additional, Arts, Peer, additional, Feng, Jinghua, additional, Andrews, James, additional, Armstrong, Mark, additional, Ha, Thuong, additional, Dobbins, Julia, additional, Drazer, Michael W., additional, Yu, Kai, additional, Bödör, Csaba, additional, Cantor, Alan, additional, Cazzola, Mario, additional, Degelman, Erin, additional, DiNardo, Courtney D., additional, Duployez, Nicolas, additional, Favier, Remi, additional, Fröhling, Stefan, additional, Fitzgibbon, Jude, additional, Klco, Jeffery M., additional, Krämer, Alwin, additional, Kurokawa, Mineo, additional, Lee, Joanne, additional, Malcovati, Luca, additional, Morgan, Neil V., additional, Natsoulis, Georges, additional, Owen, Carolyn, additional, Patel, Keyur P., additional, Preudhomme, Claude, additional, Raslova, Hana, additional, Rienhoff, Hugh, additional, Ripperger, Tim, additional, Schulte, Rachael, additional, Tawana, Kiran, additional, Velloso, Elvira, additional, Yan, Benedict, additional, Liu, Paul, additional, Godley, Lucy A., additional, Schreiber, Andreas W., additional, Hahn, Christopher N., additional, Scott, Hamish S., additional, and Brown, Anna L., additional

Published
2021
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