Literature DB >> 32016553

An update on the central nervous system manifestations of familial tumor predisposition syndromes.

David A Solomon1.   

Abstract

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Year:  2020        PMID: 32016553      PMCID: PMC7102922          DOI: 10.1007/s00401-020-02130-0

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN: 0001-6322            Impact factor:   17.088


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  21 in total

Review 1.  An update on the central nervous system manifestations of Li-Fraumeni syndrome.

Authors:  Brent A Orr; Michael R Clay; Emilia M Pinto; Chimene Kesserwan
Journal:  Acta Neuropathol       Date:  2019-08-30       Impact factor: 17.088

Review 2.  An update on the central nervous system manifestations of tuberous sclerosis complex.

Authors:  Jennifer A Cotter
Journal:  Acta Neuropathol       Date:  2019-04-11       Impact factor: 17.088

3.  Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

Authors:  Franck Bourdeaut; Delphine Lequin; Laurence Brugières; Stéphanie Reynaud; Christelle Dufour; François Doz; Nicolas André; Jean-Louis Stephan; Yves Pérel; Odile Oberlin; Daniel Orbach; Christophe Bergeron; Xavier Rialland; Paul Fréneaux; Dominique Ranchere; Dominique Figarella-Branger; Georges Audry; Stéphanie Puget; D Gareth Evans; Joan Carles Ferreres Pinas; Valeria Capra; Véronique Mosseri; Isabelle Coupier; Marion Gauthier-Villars; Gaëlle Pierron; Olivier Delattre
Journal:  Clin Cancer Res       Date:  2011-01-01       Impact factor: 12.531

4.  TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

Authors:  Uri Tabori; Adam Shlien; Berivan Baskin; Sarah Levitt; Peter Ray; Noa Alon; Cynthia Hawkins; Eric Bouffet; Malgorzata Pienkowska; Lucie Lafay-Cousin; Alexa Gozali; Nataliya Zhukova; Lisa Shane; Ignacio Gonzalez; Jonathan Finlay; David Malkin
Journal:  J Clin Oncol       Date:  2010-03-22       Impact factor: 44.544

5.  Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas.

Authors:  Ganesh M Shankar; Malak Abedalthagafi; Rachael A Vaubel; Parker H Merrill; Naema Nayyar; Corey M Gill; Ryan Brewster; Wenya Linda Bi; Pankaj K Agarwalla; Aaron R Thorner; David A Reardon; Ossama Al-Mefty; Patrick Y Wen; Brian M Alexander; Paul van Hummelen; Tracy T Batchelor; Keith L Ligon; Azra H Ligon; Matthew Meyerson; Ian F Dunn; Rameen Beroukhim; David N Louis; Arie Perry; Scott L Carter; Caterina Giannini; William T Curry; Daniel P Cahill; Frederick G Barker; Priscilla K Brastianos; Sandro Santagata
Journal:  Neuro Oncol       Date:  2017-04-01       Impact factor: 12.300

Review 6.  An update on the CNS manifestations of brain tumor polyposis syndromes.

Authors:  Byungjin Kim; Uri Tabori; Cynthia Hawkins
Journal:  Acta Neuropathol       Date:  2020-01-22       Impact factor: 17.088

7.  Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

Authors:  Eric Bouffet; Valérie Larouche; Brittany B Campbell; Daniele Merico; Richard de Borja; Melyssa Aronson; Carol Durno; Joerg Krueger; Vanja Cabric; Vijay Ramaswamy; Nataliya Zhukova; Gary Mason; Roula Farah; Samina Afzal; Michal Yalon; Gideon Rechavi; Vanan Magimairajan; Michael F Walsh; Shlomi Constantini; Rina Dvir; Ronit Elhasid; Alyssa Reddy; Michael Osborn; Michael Sullivan; Jordan Hansford; Andrew Dodgshun; Nancy Klauber-Demore; Lindsay Peterson; Sunil Patel; Scott Lindhorst; Jeffrey Atkinson; Zane Cohen; Rachel Laframboise; Peter Dirks; Michael Taylor; David Malkin; Steffen Albrecht; Roy W R Dudley; Nada Jabado; Cynthia E Hawkins; Adam Shlien; Uri Tabori
Journal:  J Clin Oncol       Date:  2016-03-21       Impact factor: 44.544

8.  Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Authors:  Miriam J Smith; James O'Sullivan; Sanjeev S Bhaskar; Kristen D Hadfield; Gemma Poke; John Caird; Saba Sharif; Diana Eccles; David Fitzpatrick; Daniel Rawluk; Daniel du Plessis; William G Newman; D Gareth Evans
Journal:  Nat Genet       Date:  2013-02-03       Impact factor: 38.330

9.  Germline mutations in shelterin complex genes are associated with familial glioma.

Authors:  Matthew N Bainbridge; Georgina N Armstrong; M Monica Gramatges; Alison A Bertuch; Shalini N Jhangiani; Harsha Doddapaneni; Lora Lewis; Joseph Tombrello; Spyros Tsavachidis; Yanhong Liu; Ali Jalali; Sharon E Plon; Ching C Lau; Donald W Parsons; Elizabeth B Claus; Jill Barnholtz-Sloan; Dora Il'yasova; Joellen Schildkraut; Francis Ali-Osman; Siegal Sadetzki; Christoffer Johansen; Richard S Houlston; Robert B Jenkins; Daniel Lachance; Sara H Olson; Jonine L Bernstein; Ryan T Merrell; Margaret R Wrensch; Kyle M Walsh; Faith G Davis; Rose Lai; Sanjay Shete; Kenneth Aldape; Christopher I Amos; Patricia A Thompson; Donna M Muzny; Richard A Gibbs; Beatrice S Melin; Melissa L Bondy
Journal:  J Natl Cancer Inst       Date:  2014-12-07       Impact factor: 11.816

10.  Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Authors:  Sebastian M Waszak; Paul A Northcott; Ivo Buchhalter; Giles W Robinson; Christian Sutter; Susanne Groebner; Kerstin B Grund; Laurence Brugières; David T W Jones; Kristian W Pajtler; A Sorana Morrissy; Marcel Kool; Dominik Sturm; Lukas Chavez; Aurelie Ernst; Sebastian Brabetz; Michael Hain; Thomas Zichner; Maia Segura-Wang; Joachim Weischenfeldt; Tobias Rausch; Balca R Mardin; Xin Zhou; Cristina Baciu; Christian Lawerenz; Jennifer A Chan; Pascale Varlet; Lea Guerrini-Rousseau; Daniel W Fults; Wiesława Grajkowska; Peter Hauser; Nada Jabado; Young-Shin Ra; Karel Zitterbart; Suyash S Shringarpure; Francisco M De La Vega; Carlos D Bustamante; Ho-Keung Ng; Arie Perry; Tobey J MacDonald; Pablo Hernáiz Driever; Anne E Bendel; Daniel C Bowers; Geoffrey McCowage; Murali M Chintagumpala; Richard Cohn; Timothy Hassall; Gudrun Fleischhack; Tone Eggen; Finn Wesenberg; Maria Feychting; Birgitta Lannering; Joachim Schüz; Christoffer Johansen; Tina V Andersen; Martin Röösli; Claudia E Kuehni; Michael Grotzer; Kristina Kjaerheim; Camelia M Monoranu; Tenley C Archer; Elizabeth Duke; Scott L Pomeroy; Redmond Shelagh; Stephan Frank; David Sumerauer; Wolfram Scheurlen; Marina V Ryzhova; Till Milde; Christian P Kratz; David Samuel; Jinghui Zhang; David A Solomon; Marco Marra; Roland Eils; Claus R Bartram; Katja von Hoff; Stefan Rutkowski; Vijay Ramaswamy; Richard J Gilbertson; Andrey Korshunov; Michael D Taylor; Peter Lichter; David Malkin; Amar Gajjar; Jan O Korbel; Stefan M Pfister
Journal:  Lancet Oncol       Date:  2018-05-09       Impact factor: 54.433

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