Literature DB >> 32923893

Germ Cell Mosaicism: A Rare Cause of Li-Fraumeni Recurrence Among Siblings.

Lauren N Donovan1, Wendy Kohlmann2, Angela K Snow2, Deborah W Neklason2,3, Joshua D Schiffman2,4, Luke Maese2,4.   

Abstract

Entities:  

Year:  2020        PMID： 32923893      PMCID： PMC7446446          DOI： 10.1200/PO.20.00064

Source DB:  PubMed          Journal:  JCO Precis Oncol        ISSN： 2473-4284


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  16 in total

1.  Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

Authors:  Mandy L Ballinger; Ana Best; Phuong L Mai; Payal P Khincha; Jennifer T Loud; June A Peters; Maria Isabel Achatz; Rubens Chojniak; Alexandre Balieiro da Costa; Karina Miranda Santiago; Judy Garber; Allison F O'Neill; Rosalind A Eeles; D Gareth Evans; Eveline Bleiker; Gabe S Sonke; Marielle Ruijs; Claudette Loo; Joshua Schiffman; Anne Naumer; Wendy Kohlmann; Louise C Strong; Jasmina Bojadzieva; David Malkin; Surya P Rednam; Elena M Stoffel; Erika Koeppe; Jeffrey N Weitzel; Thomas P Slavin; Bita Nehoray; Mark Robson; Michael Walsh; Lorenzo Manelli; Anita Villani; David M Thomas; Sharon A Savage
Journal:  JAMA Oncol       Date:  2017-12-01       Impact factor: 31.777

Review 2.  Surveillance recommendations for patients with germline TP53 mutations.

Authors:  Mandy L Ballinger; Gillian Mitchell; David M Thomas
Journal:  Curr Opin Oncol       Date:  2015-07       Impact factor: 3.645

3.  Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome.

Authors:  Casey R Tak; Eman Biltaji; Wendy Kohlmann; Luke Maese; Pierre Hainaut; Anita Villani; David Malkin; Catherine M T Sherwin; Diana I Brixner; Joshua D Schiffman
Journal:  Pediatr Blood Cancer       Date:  2019-02-04       Impact factor: 3.167

Review 4.  Somatic gene mutation and human disease other than cancer: an update.

Authors:  Robert P Erickson
Journal:  Mutat Res       Date:  2010-04-24       Impact factor: 2.433

5.  Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

Authors:  Gaëlle Bougeard; Mariette Renaux-Petel; Jean-Michel Flaman; Camille Charbonnier; Pierre Fermey; Muriel Belotti; Marion Gauthier-Villars; Dominique Stoppa-Lyonnet; Emilie Consolino; Laurence Brugières; Olivier Caron; Patrick R Benusiglio; Brigitte Bressac-de Paillerets; Valérie Bonadona; Catherine Bonaïti-Pellié; Julie Tinat; Stéphanie Baert-Desurmont; Thierry Frebourg
Journal:  J Clin Oncol       Date:  2015-05-26       Impact factor: 44.544

6.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

Authors:  Anita Villani; Ari Shore; Jonathan D Wasserman; Derek Stephens; Raymond H Kim; Harriet Druker; Bailey Gallinger; Anne Naumer; Wendy Kohlmann; Ana Novokmet; Uri Tabori; Marta Tijerin; Mary-Louise C Greer; Jonathan L Finlay; Joshua D Schiffman; David Malkin
Journal:  Lancet Oncol       Date:  2016-08-05       Impact factor: 41.316

Review 7.  Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome.

Authors:  Amina Amadou; Maria I W Achatz; Pierre Hainaut
Journal:  Curr Opin Oncol       Date:  2018-01       Impact factor: 3.645

8.  Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome.

Authors:  Kamila Prochazkova; Kristyna Pavlikova; Marek Minarik; David Sumerauer; Roman Kodet; Zdenek Sedlacek
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

Review 9.  Li-Fraumeni syndrome: cancer risk assessment and clinical management.

Authors:  Kate A McBride; Mandy L Ballinger; Emma Killick; Judy Kirk; Martin H N Tattersall; Rosalind A Eeles; David M Thomas; Gillian Mitchell
Journal:  Nat Rev Clin Oncol       Date:  2014-03-18       Impact factor: 66.675

10.  A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.

Authors:  Sam Behjati; Mariana Maschietto; Richard D Williams; Lucy Side; Mike Hubank; Rebecca West; Katie Pearson; Neil Sebire; Patrick Tarpey; Andrew Futreal; Tony Brooks; Michael R Stratton; John Anderson
Journal:  PLoS One       Date:  2014-05-08       Impact factor: 3.240
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  1 in total

1.  Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings.

Authors:  Zishi Fang; Yan Su; Hailang Sun; Ming Ge; Zhan Qi; Chanjuan Hao; Suyun Qian; Xiaoli Ma
Journal:  BMC Pediatr       Date:  2021-12-27       Impact factor: 2.125
  1 in total

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