Literature DB >> 18178638

Is CHEK2 a cause of the Li-Fraumeni syndrome?

D G Evans, J M Birch, S A Narod.   

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Year:  2008        PMID： 18178638     DOI： 10.1136/jmg.2007.054700

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

1.  Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

Authors:  Bryce A Seifert; Julianne M O'Daniel; Krunal Amin; Daniel S Marchuk; Nirali M Patel; Joel S Parker; Alan P Hoyle; Lisle E Mose; Andrew Marron; Michele C Hayward; Christopher Bizon; Kirk C Wilhelmsen; James P Evans; H Shelton Earp; Norman E Sharpless; D Neil Hayes; Jonathan S Berg
Journal:  Clin Cancer Res       Date:  2016-04-15       Impact factor: 12.531

2.  Genetic modeling of Li-Fraumeni syndrome in zebrafish.

Authors:  John M Parant; Stephen A George; Joseph A Holden; H Joseph Yost
Journal:  Dis Model Mech       Date:  2010 Jan-Feb       Impact factor: 5.758

3.  At-risk populations for osteosarcoma: the syndromes and beyond.

Authors:  George T Calvert; R Lor Randall; Kevin B Jones; Lisa Cannon-Albright; Stephen Lessnick; Joshua D Schiffman
Journal:  Sarcoma       Date:  2012-03-12

4.  First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.

Authors:  Gianluca Tedaldi; Rita Danesi; Valentina Zampiga; Michela Tebaldi; Lucia Bedei; Wainer Zoli; Dino Amadori; Fabio Falcini; Daniele Calistri
Journal:  BMC Cancer       Date:  2014-07-01       Impact factor: 4.430

5.  Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?

Authors:  Dilanka L De Silva; Ingrid Winship
Journal:  BMJ Case Rep       Date:  2020-09-07

6.  The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

Authors:  Marielle W G Ruijs; Annegien Broeks; Fred H Menko; Margreet G E M Ausems; Anja Wagner; Rogier Oldenburg; Hanne Meijers-Heijboer; Laura J van't Veer; Senno Verhoef
Journal:  Hered Cancer Clin Pract       Date:  2009-02-17       Impact factor: 2.857

7.  CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

Authors:  Ranjan Chrisanthar; Stian Knappskog; Erik Løkkevik; Gun Anker; Bjørn Østenstad; Steinar Lundgren; Elisabet O Berge; Terje Risberg; Ingvil Mjaaland; Lovise Maehle; Lars Fredrik Engebretsen; Johan Richard Lillehaug; Per Eystein Lønning
Journal:  PLoS One       Date:  2008-08-26       Impact factor: 3.240

8.  Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.

Authors:  Xuehan Zhuang; Yongping Li; Hongzhi Cao; Ting Wang; Jianghao Chen; Jiayun Liu; Liya Lin; Rui Ye; Xinyang Li; Shuang Liu; Weiyang Li; Yonggang Lv; Juliang Zhang; Chenyang He; Xun Xu; Zhen Wang; Chen Huang; Xiao Liu; Ling Wang
Journal:  Medicine (Baltimore)       Date:  2016-07       Impact factor: 1.889

Review 9.  Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?

Authors:  Davide Angeli; Samanta Salvi; Gianluca Tedaldi
Journal:  Int J Mol Sci       Date:  2020-02-08       Impact factor: 5.923

Review 10.  Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.

Authors:  Roberto Carta; Giada Del Baldo; Evelina Miele; Agnese Po; Zein Mersini Besharat; Francesca Nazio; Giovanna Stefania Colafati; Eleonora Piccirilli; Emanuele Agolini; Martina Rinelli; Mariachiara Lodi; Antonella Cacchione; Andrea Carai; Luigi Boccuto; Elisabetta Ferretti; Franco Locatelli; Angela Mastronuzzi
Journal:  Front Oncol       Date:  2020-10-29       Impact factor: 6.244
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