Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis

2018 ◽  
Vol 39 (12) ◽  
pp. 2040-2046 ◽  
Author(s):  
Konstantin Weber-Lassalle ◽  
Philipp Harter ◽  
Jan Hauke ◽  
Corinna Ernst ◽  
Stefan Kommoss ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Li Fraumeni Syndrome ◽  
Clonal Hematopoiesis ◽  
Li Fraumeni ◽  
Tp53 Germline Mutations

scholarly journals Two TP53 germline mutations in a classical Li-Fraumeni syndrome family

2007 ◽  
Vol 6 (3) ◽  
pp. 311-316 ◽  
Author(s):  
Liselotte P. van Hest ◽  
Mariëlle W. G. Ruijs ◽  
Anja Wagner ◽  
Conny A. van der Meer ◽  
Senno Verhoef ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Tp53 Germline Mutations

scholarly journals Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort

2012 ◽  
Vol 133 (3) ◽  
pp. 1125-1130 ◽  
Author(s):  
Serena Masciari ◽  
Deborah A. Dillon ◽  
Michelle Rath ◽  
Mark Robson ◽  
Jeffrey N. Weitzel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Germline Mutations ◽  
Li Fraumeni Syndrome ◽  
Cancer Phenotype ◽  
Li Fraumeni ◽  
Tp53 Germline Mutations

p53 germline mutations in Li-Fraumeni syndrome

The Lancet ◽  
1991 ◽  
Vol 338 (8781) ◽  
pp. 1490-1491 ◽  
Author(s):  
M.F. Santibáñez-Koref ◽  
J.M. Birch ◽  
A.L. Hartley ◽  
D. Crowther ◽  
M. Harris ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Beyond Li-Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations

2008 ◽  
Vol 26 (15_suppl) ◽  
pp. 11031-11031
Author(s):  
K. D. Gonzalez ◽  
K. A. Noltner ◽  
C. H. Buzin ◽  
D. Gu ◽  
C. Y. Wen-Fong ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Germline Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Increasing evidence that germline mutations inCHEK2do not cause Li-Fraumeni syndrome

2002 ◽  
Vol 20 (6) ◽  
pp. 460-462 ◽  
Author(s):  
Nayanta Sodha ◽  
Richard S. Houlston ◽  
Sarah Bullock ◽  
Martin A. Yuille ◽  
Carol Chu ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

scholarly journals Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic TP53 Mutation

2018 ◽  
Vol 16 (5) ◽  
pp. 461-466 ◽  
Author(s):  
Rachel L. Mitchell ◽  
Cory Kosche ◽  
Kelly Burgess ◽  
Shreya Wadhwa ◽  
Lela Buckingham ◽  
...  
Keyword(s):  
Tp53 Mutation ◽  
Li Fraumeni Syndrome ◽  
Clonal Hematopoiesis ◽  
Li Fraumeni
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