A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome

1996 ◽  
Vol 32 (8) ◽  
pp. 1359-1365 ◽  
Author(s):  
B. Dockhorn-dworniczak ◽  
J. Wolff ◽  
C. Poremba ◽  
K.-L. Schäfer ◽  
J. Ritter ◽  
...  
2009 ◽  
Vol 193 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Alena Finkova ◽  
Alzbeta Vazna ◽  
Ondrej Hrachovina ◽  
Sarka Bendova ◽  
Kamila Prochazkova ◽  
...  

2016 ◽  
Vol 39 (1) ◽  
pp. 37 ◽  
Author(s):  
David Malkin

In a typical morning in the Cancer Genetics Clinic at The Hospital for Sick Children in Toronto, the following array of patients and families might be seen: a family of three children, all harbouring a mutation of the succinyl dehydrogenase C gene inherited from their father who had had extensive surgery several years ago for a secreting paraganglioma; three families with Li-Fraumeni syndrome, each with at least one child harbouring a TP53 gene mutation conferring a lifetime risk of cancer approaching 100% and currently undergoing surveillance for early tumour detection; two children with Li-Fraumeni syndrome undergoing treatment for cancer – one having had three cancer diagnoses before 19 months of age and the other just completing therapy for metastatic adrenocortical carcinoma at age 3; two children with von Hippel-Lindau disease being monitored for persistent pancreatic neuroendocrine tumors and cerebellar hemangioblastomas, respectively; and one child with Beckwith-Wiedeman syndrome and Wilms tumor and another child completing therapy for a pleuropulmonary blastoma (PPB).


1997 ◽  
Vol 36 (3) ◽  
pp. 295-300 ◽  
Author(s):  
Jin W. Kim ◽  
Youl H. Cho ◽  
Chun G. Lee ◽  
Jae H. Kim ◽  
Heung K. Kim ◽  
...  

Immunotherapy ◽  
2019 ◽  
Vol 11 (4) ◽  
pp. 265-272 ◽  
Author(s):  
Qing Li ◽  
Jingcao Huang ◽  
Yang Ou ◽  
Yan Li ◽  
Yu Wu

2001 ◽  
Vol 69 (1) ◽  
pp. 65-68 ◽  
Author(s):  
B.L. Powell ◽  
S. Bydder ◽  
F. Grieu ◽  
G. Gnanasampanthan ◽  
H. Elsaleh ◽  
...  

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 11557-11557 ◽  
Author(s):  
Sally Agersborg ◽  
Shiping Jiang ◽  
Wayne Chen ◽  
Wanlong Ma ◽  
Maher Albitar

2000 ◽  
Vol 36 (16) ◽  
pp. 2053-2060 ◽  
Author(s):  
R Soong ◽  
B Powell ◽  
H Elsaleh ◽  
G Gnanasampanthan ◽  
D.R Smith ◽  
...  

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