scholarly journals Heterogeneity of Li-Fraumeni Syndrome links to unequal gain-of-function effects of p53 mutations

2014 ◽  
Vol 4 (1) ◽  
Author(s):  
Jie Xu ◽  
Jin Qian ◽  
Ye Hu ◽  
Jilin Wang ◽  
Xiaolin Zhou ◽  
...  
Keyword(s):  
P53 Mutations ◽  
Gain Of Function ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

scholarly journals Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

1998 ◽  
Vol 77 (7) ◽  
pp. 1034-1039 ◽  
Author(s):  
Z Sedlacek ◽  
R Kodet ◽  
V Kriz ◽  
E Seemanova ◽  
P Vodvarka ◽  
...  
Keyword(s):  
P53 Mutations ◽  
Wild Type ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Wild Type P53

scholarly journals Mutant p53 Gain of Function in Two Mouse Models of Li-Fraumeni Syndrome

Cell ◽  
2004 ◽  
Vol 119 (6) ◽  
pp. 847-860 ◽  
Author(s):  
Kenneth P. Olive ◽  
David A. Tuveson ◽  
Zachary C. Ruhe ◽  
Bob Yin ◽  
Nicholas A. Willis ◽  
...  
Keyword(s):  
Mouse Models ◽  
Mutant P53 ◽  
Gain Of Function ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Germ-line P53 mutations and Li-Fraumeni syndrome

1993 ◽  
Vol 29 ◽  
pp. S38
Author(s):  
L. Brugières ◽  
B. Bressac ◽  
C. Bonaïti-Pellié ◽  
J. Lemerie ◽  
J. Feunteun
Keyword(s):  
Germ Line ◽  
P53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations

2009 ◽  
Vol 27 (8) ◽  
pp. 1250-1256 ◽  
Author(s):  
Kelly D. Gonzalez ◽  
Katie A. Noltner ◽  
Carolyn H. Buzin ◽  
Dongqing Gu ◽  
Cindy Y. Wen-Fong ◽  
...  
Keyword(s):  
Family History ◽  
Diagnostic Testing ◽  
P53 Gene ◽  
Germline Mutations ◽  
P53 Mutation ◽  
Family Characteristics ◽  
P53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Associated Family

Purpose A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53 mutations to aid clinicians in identifying high-risk families. Patients and Methods Full sequencing of the coding exons (2 to 11) and associated splice junctions of the p53 gene was performed on 525 consecutive patients whose blood samples were submitted for diagnostic testing. Clinical features of p53 germline carriers in this cohort were characterized, clinical referral schemes based on reported p53-associated family phenotypes were evaluated, and practical mutation prevalence tables were generated. Results Mutations were identified in 91 (17%) of 525 patients submitted for testing. All families with a p53 mutation had at least one family member with a sarcoma, breast, brain, or adrenocortical carcinoma (ACC). Every individual with a choroid plexus tumor (eight of eight) and 14 of 21 individuals with a childhood ACC had a mutation regardless of family history. Based on reported personal and family history, 95% of patients (71 of 75) with a mutation met either classic Li Fraumeni syndrome (LFS) or Chompret criteria. A simplified prevalence table provides a concise summary of individual and family characteristics associated with p53 mutations. Conclusion This is, to our knowledge, the largest single report of diagnostic testing for germline p53 mutations, yielding practical mutation prevalence tables and suggesting clinical utility of classic LFS and Chompret criteria for identifying a subset of cancer-prone families with p53 germline mutations, with important implications for diagnosis and management.

scholarly journals Gain of Function of a p53 Hot Spot Mutation in a Mouse Model of Li-Fraumeni Syndrome

Cell ◽  
2004 ◽  
Vol 119 (6) ◽  
pp. 861-872 ◽  
Author(s):  
Gene A. Lang ◽  
Tomoo Iwakuma ◽  
Young-Ah Suh ◽  
Geng Liu ◽  
V.Ashutosh Rao ◽  
...  
Keyword(s):  
Mouse Model ◽  
Hot Spot ◽  
Gain Of Function ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Li-Fraumeni syndrome and adrenal tumours: case report

2018 ◽  
Author(s):  
Mariana Tome ◽  
Jessica Guarino ◽  
Marta Iturregui
Keyword(s):  
Case Report ◽  
Li Fraumeni Syndrome ◽  
Adrenal Tumours ◽  
Li Fraumeni

Neuroradiology Manifestations of Li-Fraumeni Syndrome: Epidemiology, Genetics, Imaging Findings, and Management

Neurographics ◽  
2020 ◽  
Vol 10 (4) ◽  
pp. 228-235
Author(s):  
S. Naganawa ◽  
T. Donohue ◽  
A. Capizzano ◽  
Y. Ota ◽  
J. Kim ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Soft Tissue Sarcomas ◽  
Suppressor Gene ◽  
Imaging Findings ◽  
Li Fraumeni Syndrome ◽  
Increased Risk ◽  
Li Fraumeni ◽  
Risk Of Cancer

Li-Fraumeni syndrome is a familial cancer predisposition syndrome associated with germline mutation of the tumor suppressor gene 53, which encodes the tumor suppressor p53 protein. Affected patients are predisposed to an increased risk of cancer development, including soft-tissue sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma, among other malignancies. The tumor suppressor gene TP53 plays an important, complex role in regulating the cell cycle, collaborating with transcription factors and other proteins. The disruption of appropriate cell cycle regulation by mutated TP53 is considered to be the cause of tumorigenesis in Li-Fraumeni syndrome. Appropriate surveillance, predominantly by using MR imaging, is used for early malignancy screening in an effort to improve the survival rate among individuals who are affected. Patients with Li-Fraumeni syndrome are also at increased risk for neoplasm development after radiation exposure, and, therefore, avoiding unnecessary radiation in both the diagnostic and therapeutic settings is paramount. Here, we review the epidemiology, genetics, imaging findings, and the current standard surveillance protocol for Li-Fraumeni syndrome from the National Comprehensive Cancer Network as well as potential treatment options.Learning Objective: Describe the cause of second primary malignancy among patients with Li-Fraumeni syndrome.

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