Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

Autor: Judith Penkert, Farina J. Strüwe, Christina M. Dutzmann, Beate B. Doergeloh, Emilie Montellier, Claire Freycon, Myriam Keymling, Heinz-Peter Schlemmer, Birte Sänger, Beatrice Hoffmann, Tanja Gerasimov, Claudia Blattmann, Sebastian Fetscher, Michael Frühwald, Simone Hettmer, Uwe Kordes, Vita Ridola, Sabine Kroiss Benninger, Angela Mastronuzzi, Sarah Schott, Juliane Nees, Aram Prokop, Antje Redlich, Markus G. Seidel, Stefanie Zimmermann, Kristian W. Pajtler, Stefan M. Pfister, Pierre Hainaut, Christian P. Kratz

Publikováno v: Journal of Hematology & Oncology, Vol 15, Iss 1, Pp 1-5 (2022)

Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. T

Externí odkaz: https://doaj.org/article/2cb9a5b00a8343d796030d303ca1dcce

Supplementary Table S1 from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Autor: Chris Jones, David T.W. Jones, Thomas S. Jacques, David W. Ellison, Sergey Popov, David Capper, Maria Vinci, Andrea Carai, Angela Mastronuzzi, Suzanne J. Baker, Felix Sahm, Stefan M. Pfister, Christof M. Kramm, Andreas von Deimling, Lynley V. Marshall, Fernando Carceller, Darren R. Hargrave, Kristian Aquilina, Matthias A. Karajannis, David S. Ziegler, Mark J. Cowley, Maria Tsoli, Stephen P. Lowis, Timothy E.G. Hassall, Andrew S. Moore, Simon Bailey, Francesca Diomedi-Camassei, Giovanna Stefania Colafati, Evelina Miele, Clare Mitchell, Tabitha Bloom, Olaf Witt, Marc Zuckermann, Dominik Sturm, Barbara C. Worst, Lotte Hiddingh, Andrey Korshunov, Pablo Hernáiz Driever, Felipe Andreiuolo, Torsten Pietsch, Simone Hettmer, Kornelius Kerl, Winand N.M. Dinjens, Martin Ebinger, Martin U. Schuhmann, Jens Schittenhelm, Michael Karremann, Michael Capra, Jane B. Cryan, Michael Farrell, Petter Brandal, Thale Kristin Olsen, David A. Solomon, Monika Ashok Davare, Lissa Baird, Matthew D. Wood, Barbara Faganel Kotnik, Mara Popović, Shani Caspi, Ho-Keung Ng, Roger Packer, Irene Slavc, Christine Haberler, Matthias Preusser, Tobey J. Macdonald, Paula Z. Proszek, Debbie Hughes, Marc K. Rosenblum, Stephen W. Gilheeney, Ira J. Dunkel, Martin Sill, Simon P. Robinson, Jessica K.R. Boult, Rachael Natrajan, Claire Cairns, Bassel Zebian, Christopher Chandler, Safa Al-Sarraj, Lawrence J. Doey, Andrew J. Martin, Leslie Bridges, Matija Snuderl, David E. Kram, Uwe Kordes, Ulrich Schüller, Jeffrey Knipstein, Stephen Crosier, Mellissa Maybury, Catherine Rowe, Kathreena M. Kurian, Michael Hubank, Ji Wen, Wilda Orisme, James D. Dalton, Kelly Haupfear, Mark Kristiansen, Jane Chalker, Aimee Avery, Amy R. Fairchild, Alex Virasami, Louise Howell, Anna Burford, Valeria Molinari, Diana M. Carvalho, Sara Temelso, Elisa Izquierdo, Iris Stoler, Tejus A. Bale, Scott Newman, Ruth G. Tatevossian, Jessica C. Pickles, Britta Ismer, Alan Mackay, Matthew Clarke

Supplementary Table S1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04d97c92485c6eb10e27f5e8a1018f6
https://doi.org/10.1158/2159-8290.22535600

Data from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes

Autor: Chris Jones, David T.W. Jones, Thomas S. Jacques, David W. Ellison, Sergey Popov, David Capper, Maria Vinci, Andrea Carai, Angela Mastronuzzi, Suzanne J. Baker, Felix Sahm, Stefan M. Pfister, Christof M. Kramm, Andreas von Deimling, Lynley V. Marshall, Fernando Carceller, Darren R. Hargrave, Kristian Aquilina, Matthias A. Karajannis, David S. Ziegler, Mark J. Cowley, Maria Tsoli, Stephen P. Lowis, Timothy E.G. Hassall, Andrew S. Moore, Simon Bailey, Francesca Diomedi-Camassei, Giovanna Stefania Colafati, Evelina Miele, Clare Mitchell, Tabitha Bloom, Olaf Witt, Marc Zuckermann, Dominik Sturm, Barbara C. Worst, Lotte Hiddingh, Andrey Korshunov, Pablo Hernáiz Driever, Felipe Andreiuolo, Torsten Pietsch, Simone Hettmer, Kornelius Kerl, Winand N.M. Dinjens, Martin Ebinger, Martin U. Schuhmann, Jens Schittenhelm, Michael Karremann, Michael Capra, Jane B. Cryan, Michael Farrell, Petter Brandal, Thale Kristin Olsen, David A. Solomon, Monika Ashok Davare, Lissa Baird, Matthew D. Wood, Barbara Faganel Kotnik, Mara Popović, Shani Caspi, Ho-Keung Ng, Roger Packer, Irene Slavc, Christine Haberler, Matthias Preusser, Tobey J. Macdonald, Paula Z. Proszek, Debbie Hughes, Marc K. Rosenblum, Stephen W. Gilheeney, Ira J. Dunkel, Martin Sill, Simon P. Robinson, Jessica K.R. Boult, Rachael Natrajan, Claire Cairns, Bassel Zebian, Christopher Chandler, Safa Al-Sarraj, Lawrence J. Doey, Andrew J. Martin, Leslie Bridges, Matija Snuderl, David E. Kram, Uwe Kordes, Ulrich Schüller, Jeffrey Knipstein, Stephen Crosier, Mellissa Maybury, Catherine Rowe, Kathreena M. Kurian, Michael Hubank, Ji Wen, Wilda Orisme, James D. Dalton, Kelly Haupfear, Mark Kristiansen, Jane Chalker, Aimee Avery, Amy R. Fairchild, Alex Virasami, Louise Howell, Anna Burford, Valeria Molinari, Diana M. Carvalho, Sara Temelso, Elisa Izquierdo, Iris Stoler, Tejus A. Bale, Scott Newman, Ruth G. Tatevossian, Jessica C. Pickles, Britta Ismer, Alan Mackay, Matthew Clarke

Infant high-grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases under 4 years of age, and carr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c88928a63f70570ceb077ac4ab638a2
https://doi.org/10.1158/2159-8290.c.6547883.v1

SMARCA4 ‐deficient rhabdoid tumours show intermediate molecular features between SMARCB1 ‐deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type

Autor: Noëlle Weingertner, Amaury Leruste, Daniel Orbach, Nicolas Servant, Franck Bourdeaut, Uwe Kordes, Gaëlle Pierron, Nadège Corradini, Dominique Ranchère, Alexandra Leary, Alice Corsia, Ulrich Schüller, Joanna Cyrta, Michael C. Frühwald, Mamy Andrianteranagna, Dörthe Holdhof, Karolina Nemes, Olivier Delattre, Paul Fréneaux, Jonathan W. Bush, Julien Masliah-Planchon, Anne Brouchet, Natacha Entz-Werle, Marie-Pierre Castex

Publikováno v: The Journal of Pathology. 255:1-15

Extracranial rhabdoid tumours (ECRTs) are an aggressive malignancy of infancy and early childhood. The vast majority of cases demonstrate inactivation of SMARCB1 (ECRTSMARCB1 ) on a background of a remarkably stable genome, a low mutational burden, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0a0e2d72e527b2313e825903f519a07
https://doi.org/10.1002/path.5705

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

Autor: H. Boztug, Uwe Kordes, Christian P. Kratz, Kornelius Kerl, Franck Bourdeaut, K. Jahnukainen, V. Ridola, M. Jorgensen, Iris Kventsel, K. Katsibardi, Karolina Nemes, R. Farah, E. Stutz, M. C. A. Cornips, K. W. Pajtler, Michael C. Frühwald, S. Glentis, D. G. R. Evans, Steffen Hirsch

Publikováno v: Familial Cancer
Frühwald, M C, Nemes, K, Boztug, H, Cornips, M C A, Evans, D G, Farah, R, Glentis, S, Jorgensen, M, Katsibardi, K, Hirsch, S, Jahnukainen, K, Kventsel, I, Kerl, K, Kratz, C P, Pajtler, K W, Kordes, U, Ridola, V, Stutz, E & Bourdeaut, F 2021, ' Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report from the SIOPE Host Genome Working Group ', Familial Cancer, vol. 20, pp. 305-316 . https://doi.org/10.1007/s10689-021-00229-1

The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbb807eb1cf1f37b6b01b7fc71ed9382
https://doi.org/10.1007/s10689-021-00229-1