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Select item 103784061.

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll

Curr Issues Mol Biol. 2023 Jul; 45(7): 5293–5304. Published online 2023 Jun 24. doi: 10.3390/cimb45070336

PMCID:: PMC10378406

Article PDF–1.8M

Select item 102761152.

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161

Miriam J Smith, Emma R Woodward, D Gareth Evans

Fam Cancer. 2023; 22(3): 341–344. Published online 2023 Mar 24. doi: 10.1007/s10689-023-00330-7

PMCID:: PMC10276115

Article PDF–622K

Select item 96138723.

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Léa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, Pia Alhopuro, Patrick R Benusiglio, Franck Bourdeaut, Ines B Brecht, Giada Del Baldo, Sandeep Kumar Dhanda, Maria Luisa Garrè, Corrie E M Gidding, Steffen Hirsch, Pauline Hoarau, Mette Jorgensen, Christian Kratz, Lucie Lafay-Cousin, Angela Mastronuzzi, Lorenza Pastorino, Stefan M Pfister, Christopher Schroeder, Miriam Jane Smith, Pia Vahteristo, Roseline Vibert, Catheline Vilain, Nicolas Waespe, Ingrid M Winship, D Gareth Evans, Laurence Brugieres

J Med Genet. 2022 Nov; 59(11): 1123–1132. Published online 2022 Jun 29. doi: 10.1136/jmedgenet-2021-108385

PMCID:: PMC9613872

Article PDF–1.5M

Select item 94118964.

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, University of Washington Center for Mendelian Genomics (UW-CMG) group

J Med Genet. 2022 Sep; 59(9): 888–894. Published online 2021 Oct 21. doi: 10.1136/jmedgenet-2021-108114

PMCID:: PMC9411896

Article PDF–1.1M

Select item 93144845.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Article PDF–776K

Select item 92033656.

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition

Miriam J. Smith, D. Gareth Evans

Fam Cancer. 2022; 21(3): 343–346. Published online 2021 Jun 25. doi: 10.1007/s10689-021-00269-7

PMCID:: PMC9203365

Article PDF–517K

Select item 74972897.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

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

Article PDF–80K

Select item 69782759.

Unexpected phenotype in a frameshift mutation of PTCH1

Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, Giulietta Scuvera, Rosamaria Silipigni, Daniela Graziani, Gaetano Bulfamante, Cristina Gervasini, Paola Marchisio, Donatella Milani

Mol Genet Genomic Med. 2020 Jan; 8(1): e987. Published online 2019 Oct 2. doi: 10.1002/mgg3.987

PMCID:: PMC6978275

Article PDF–354K

Select item 694397310.

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

Matthias Begemann, Sebastian M. Waszak, Giles W. Robinson, Natalie Jäger, Tanvi Sharma, Cordula Knopp, Florian Kraft, Olga Moser, Martin Mynarek, Lea Guerrini-Rousseau, Laurence Brugieres, Pascale Varlet, Torsten Pietsch, Daniel C. Bowers, Murali Chintagumpala, Felix Sahm, Jan O. Korbel, Stefan Rutkowski, Thomas Eggermann, Amar Gajjar, Paul Northcott, Miriam Elbracht, Stefan M. Pfister, Udo Kontny, Ingo Kurth

J Clin Oncol. 2020 Jan 1; 38(1): 43–50. Published online 2019 Oct 14. doi: 10.1200/JCO.19.00577

PMCID:: PMC6943973

Article PDF–1.2M

Select item 674964411.

Ocular manifestations in Gorlin-Goltz syndrome

Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini, Alessandro Lambiase

Orphanet J Rare Dis. 2019; 14: 218. Published online 2019 Sep 18. doi: 10.1186/s13023-019-1190-6

PMCID:: PMC6749644

Article PDF–2.3M

Select item 628014712.

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

Léa Guerrini-Rousseau, Christelle Dufour, Pascale Varlet, Julien Masliah-Planchon, Franck Bourdeaut, Marine Guillaud-Bataille, Rachid Abbas, Anne-Isabelle Bertozzi, Fanny Fouyssac, Sophie Huybrechts, Stéphanie Puget, Brigitte Bressac-De Paillerets, Olivier Caron, Nicolas Sevenet, Marina Dimaria, Sophie Villebasse, Olivier Delattre, Dominique Valteau-Couanet, Jacques Grill, Laurence Brugières

Neuro Oncol. 2018 Jul; 20(8): 1122–1132. Published online 2017 Nov 24. doi: 10.1093/neuonc/nox228

PMCID:: PMC6280147

Article PDF–221K

Select item 582667813.

The role of the Hedgehog signaling pathway in cancer: A comprehensive review

Ana Marija Skoda, Dora Simovic, Valentina Karin, Vedran Kardum, Semir Vranic, Ljiljana Serman

Bosn J Basic Med Sci. 2018 Feb; 18(1): 8–20. doi: 10.17305/bjbms.2018.2756

PMCID:: PMC5826678

Article PDF–374K

Select item 473192514.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 454475315.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 449305316.

Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition

Marcel Kool, David T.W. Jones, Natalie Jäger, Paul A. Northcott, Trevor J. Pugh, Volker Hovestadt, Rosario M. Piro, L. Adriana Esparza, Shirley L. Markant, Marc Remke, Till Milde, Franck Bourdeaut, Marina Ryzhova, Dominik Sturm, Elke Pfaff, Sebastian Stark, Sonja Hutter, Huriye Şeker-Cin, Pascal Johann, Sebastian Bender, Christin Schmidt, Tobias Rausch, David Shih, Jüri Reimand, Laura Sieber, Andrea Wittmann, Linda Linke, Hendrik Witt, Ursula D. Weber, Marc Zapatka, Rainer König, Rameen Beroukhim, Guillaume Bergthold, Peter van Sluis, Richard Volckmann, Jan Koster, Rogier Versteeg, Sabine Schmidt, Stephan Wolf, Chris Lawerenz, Cynthia C. Bartholomae, Christof von Kalle, Andreas Unterberg, Christel Herold-Mende, Silvia Hofer, Andreas E. Kulozik, Andreas von Deimling, Wolfram Scheurlen, Jörg Felsberg, Guido Reifenberger, Martin Hasselblatt, John R. Crawford, Gerald A. Grant, Nada Jabado, Arie Perry, Cynthia Cowdrey, Sydney Croul, Gelareh Zadeh, Jan O. Korbel, Francois Doz, Olivier Delattre, Gary D. Bader, Martin G. McCabe, V. Peter Collins, Mark W. Kieran, Yoon-Jae Cho, Scott L. Pomeroy, Olaf Witt, Benedikt Brors, Michael D. Taylor, Ulrich Schüller, Andrey Korshunov, Roland Eils, Robert J. Wechsler-Reya, Peter Lichter, Stefan M. Pfister

Cancer Cell. Author manuscript; available in PMC 2015 Jul 7.

Published in final edited form as: Cancer Cell. 2014 Mar 17; 25(3): 393–405. doi: 10.1016/j.ccr.2014.02.004

PMCID:: PMC4493053

Article PDF–1.5M

Select item 440264017.

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

Binnaz Yasar, Helen J Byers, Miriam J Smith, John Lear, Deemesh Oudit, Zaynab Bholah, Stephen A Roberts, William G Newman, D Gareth Evans

Eur J Hum Genet. 2015 May; 23(5): 708–710. Published online 2014 Aug 27. doi: 10.1038/ejhg.2014.167

PMCID:: PMC4402640

Article PDF–318K

Select item 408660318.

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

Sonu Acharya, Swagatika Panda, Kanika Singh Dhull, Sujit Ranjan Sahoo, Prayas Ray

Int J Clin Pediatr Dent. 2013 Sep-Dec; 6(3): 208–212. Published online 2013 Oct 14. doi: 10.5005/jp-journals-10005-1221

PMCID:: PMC4086603

Article PDF–201K

Select item 351199619.

Loss of SUFU Function in Familial Multiple Meningioma

Mervi Aavikko, Song-Ping Li, Silva Saarinen, Pia Alhopuro, Eevi Kaasinen, Ekaterina Morgunova, Yilong Li, Kari Vesanen, Miriam J. Smith, D. Gareth R. Evans, Minna Pöyhönen, Anne Kiuru, Anssi Auvinen, Lauri A. Aaltonen, Jussi Taipale, Pia Vahteristo

Am J Hum Genet. 2012 Sep 7; 91(3): 520–526. doi: 10.1016/j.ajhg.2012.07.015

PMCID:: PMC3511996

Article PDF–1.9M

Select item 276307020.

Treatment of Cutaneous Tumors with Topical 5% Imiquimod Cream

Sabrina Sisto Alessi, Jose Antonio Sanches, Walmar Roncalli de Oliveira, Maria Cristina Messina, Eugenio Raul de Almeida Pimentel, Cyro Festa Neto

Clinics (Sao Paulo) 2009 Oct; 64(10): 961–966. doi: 10.1590/S1807-59322009001000005

PMCID:: PMC2763070

Article PDF–115K

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