PMC Articles for MedGen (Select 413749) - PMC

Select item 86433281.

SMARCA4: Implications of an altered chromatin-remodeling gene for cancer development and therapy

Kristina Mardinian, Jacob J. Adashek, Gregory P. Botta, Shumei Kato, Razelle Kurzrock

Mol Cancer Ther. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Mol Cancer Ther. 2021 Oct 12 : 10.1158/1535-7163.MCT-21-0433. Published online 2021 Oct 12. doi: 10.1158/1535-7163.MCT-21-0433

PMCID:: PMC8643328

Abstract Article PDF–1.0M

Select item 84842342.

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

M. C. Frühwald, K. Nemes, H. Boztug, M. C. A. Cornips, D. G. Evans, R. Farah, S. Glentis, M. Jorgensen, K. Katsibardi, S. Hirsch, K. Jahnukainen, I. Kventsel, K. Kerl, C. P. Kratz, K. W. Pajtler, U. Kordes, V. Ridola, E. Stutz, F. Bourdeaut

Fam Cancer. 2021; 20(4): 305–316. Published online 2021 Feb 3. doi: 10.1007/s10689-021-00229-1

PMCID:: PMC8484234

Abstract Article PDF–841K

Select item 91007523.

Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population

Karolina Nemes, Pascal D. Johann, Mona Steinbügl, Miriam Gruhle, Susanne Bens, Denis Kachanov, Margarita Teleshova, Peter Hauser, Thorsten Simon, Stephan Tippelt, Wolfgang Eberl, Martin Chada, Vicente Santa-Maria Lopez, Lorenz Grigull, Pablo Hernáiz-Driever, Matthias Eyrich, Jane Pears, Till Milde, Harald Reinhard, Alfred Leipold, Marianne van de Wetering, Maria João Gil-da-Costa, Georg Ebetsberger-Dachs, Kornelius Kerl, Andreas Lemmer, Heidrun Boztug, Rhoikos Furtwängler, Uwe Kordes, Christian Vokuhl, Martin Hasselblatt, Brigitte Bison, Thomas Kröncke, Patrick Melchior, Beate Timmermann, Joachim Gerss, Reiner Siebert, Michael C. Frühwald

Cancers (Basel) 2022 May; 14(9): 2185. Published online 2022 Apr 27. doi: 10.3390/cancers14092185

PMCID:: PMC9100752

Abstract Article PDF–3.2M

Select item 88359834.

Rare Hereditary Gynecological Cancer Syndromes

Takafumi Watanabe, Shu Soeda, Yuta Endo, Chikako Okabe, Tetsu Sato, Norihito Kamo, Makiko Ueda, Manabu Kojima, Shigenori Furukawa, Hidekazu Nishigori, Toshifumi Takahashi, Keiya Fujimori

Int J Mol Sci. 2022 Feb; 23(3): 1563. Published online 2022 Jan 29. doi: 10.3390/ijms23031563

PMCID:: PMC8835983

Abstract Article PDF–482K

Select item 79378875.

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

Giada Del Baldo, Roberto Carta, Iside Alessi, Pietro Merli, Emanuele Agolini, Martina Rinelli, Luigi Boccuto, Giuseppe Maria Milano, Annalisa Serra, Andrea Carai, Franco Locatelli, Angela Mastronuzzi

Front Oncol. 2021; 11: 586288. Published online 2021 Feb 22. doi: 10.3389/fonc.2021.586288

PMCID:: PMC7937887

Abstract Article PDF–497K

Select item 97230576.

Nervous system (NS) Tumors in Cancer Predisposition Syndromes

Prabhumallikarjun Patil, Bojana Borislavova Pencheva, Vinayak Mahesh Patil, Jason Fangusaro

Neurotherapeutics. 2022 Oct; 19(6): 1752–1771. Published online 2022 Sep 2. doi: 10.1007/s13311-022-01277-w

PMCID:: PMC9723057

Abstract Article PDF–2.7M

Select item 84489407.

Histologic and genomic features of breast cancers with alterations affecting the SWI/SNF (SMARC) genes

Christopher J. Schwartz, Fresia Pareja, Edaise M. da Silva, Pier Selenica, Dara S. Ross, Britta Weigelt, Edi Brogi, Jorge S. Reis-Filho, Hannah Y. Wen

Mod Pathol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Mod Pathol. 2021 Oct; 34(10): 1850–1859. Published online 2021 Jun 2. doi: 10.1038/s41379-021-00837-3

PMCID:: PMC8448940

Abstract Article PDF–1.5M

Select item 73096788.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome

William D. Foulkes, Junne Kamihara, D. Gareth R. Evans, Laurence Brugières, Franck Bourdeaut, Jan J. Molenaar, Michael F. Walsh, Garrett M. Brodeur, Lisa Diller

Clin Cancer Res. Author manuscript; available in PMC 2020 Jun 23.

Published in final edited form as: Clin Cancer Res. 2017 Jun 15; 23(12): e62–e67. doi: 10.1158/1078-0432.CCR-17-0595

PMCID:: PMC7309678

Abstract Article PDF–80K

Select item 55635069.

Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development

Jeremie Vitte, Fuying Gao, Giovanni Coppola, Alexander R. Judkins, Marco Giovannini

Nat Commun. 2017; 8: 300. Published online 2017 Aug 21. doi: 10.1038/s41467-017-00346-5

PMCID:: PMC5563506

Abstract Article PDF–3.9M

Select item 525879510.

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N. Cooper

Hum Genet. 2017; 136(2): 129–148. Published online 2016 Dec 5. doi: 10.1007/s00439-016-1753-8

PMCID:: PMC5258795

Abstract Article PDF–1.5M

Select item 483236211.

Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type

Anthony N Karnezis, Yemin Wang, Pilar Ramos, William PD Hendricks, Esther Oliva, Emanuela D'Angelo, Jaime Prat, Marisa R Nucci, Torsten O Nielsen, Christine Chow, Samuel Leung, Friedrich Kommoss, Stefan Kommoss, Annacarolina Silva, Brigitte M Ronnett, Joseph T Rabban, David D Bowtell, Bernard E Weissman, Jeffrey M Trent, C Blake Gilks, David G Huntsman

J Pathol. 2016 Feb; 238(3): 389–400. Published online 2015 Dec 21. doi: 10.1002/path.4633

PMCID:: PMC4832362

Abstract Article PDF–3.2M

Select item 282019012.

Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

Reinhard Schneppenheim, Michael C. Frühwald, Stefan Gesk, Martin Hasselblatt, Astrid Jeibmann, Uwe Kordes, Markus Kreuz, Ivo Leuschner, Jose Ignacio Martin Subero, Tobias Obser, Florian Oyen, Inga Vater, Reiner Siebert

Am J Hum Genet. 2010 Feb 12; 86(2): 279–284. doi: 10.1016/j.ajhg.2010.01.013

PMCID:: PMC2820190

Abstract Article PDF–587K

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