Germ-Line TP53 Mutations in Finnish Cancer Families Exhibiting Features of the Li-Fraumeni Syndrome and Negative for BRCA1 and BRCA2

1999 ◽  
Vol 112 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Pia Huusko ◽  
Katariina Castrén ◽  
Virpi Launonen ◽  
Ylermi Soini ◽  
Kati Pääkkönen ◽  
...  
Keyword(s):  
Germ Line ◽  
Brca1 And Brca2 ◽  
Tp53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations

2009 ◽  
Vol 193 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Alena Finkova ◽  
Alzbeta Vazna ◽  
Ondrej Hrachovina ◽  
Sarka Bendova ◽  
Kamila Prochazkova ◽  
...  
Keyword(s):  
Gene Promoter ◽  
Tp53 Gene ◽  
Tp53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

scholarly journals Joint Effects of Germ-Line p53 Mutation and Sex on Cancer Risk in Li-Fraumeni Syndrome

2006 ◽  
Vol 66 (16) ◽  
pp. 8287-8292 ◽  
Author(s):  
Chih-Chieh Wu ◽  
Sanjay Shete ◽  
Christopher I. Amos ◽  
Louise C. Strong
Keyword(s):  
Cancer Risk ◽  
Germ Line ◽  
P53 Mutation ◽  
Joint Effects ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome

2018 ◽  
Vol 17 (4) ◽  
pp. 607-613 ◽  
Author(s):  
Shelley Macaulay ◽  
Quintin Clive Goodyear ◽  
Mia Kruger ◽  
Wenlong Chen ◽  
Fahmida Essop ◽  
...  
Keyword(s):  
Tp53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Sub Saharan ◽  
African Families

scholarly journals Efficacy of oral metformin in a patient with metastatic adrenocortical carcinoma: Examination of mechanisms and therapeutic implications

Rare Tumors ◽  
2018 ◽  
Vol 10 ◽  
pp. 203636131774964 ◽  
Author(s):  
RD Peixoto ◽  
LM Gomes ◽  
TT Sousa ◽  
DJ Racy ◽  
M Shigenaga ◽  
...  
Keyword(s):  
Adrenocortical Carcinoma ◽  
Tp53 Mutation ◽  
Germ Line ◽  
Objective Response ◽  
Tp53 Gene ◽  
Li Fraumeni Syndrome ◽  
Therapeutic Implications ◽  
Treatment Regimens ◽  
First Line Therapy ◽  
Li Fraumeni

Although rare, adrenocortical carcinoma is among the most common tumors found in children with Li-Fraumeni syndrome and Li-Fraumeni-like syndrome, associated with germ-line mutations in the TP53 gene. In southern Brazil, one form of Li-Fraumeni syndrome, associated with childhood adrenocortical carcinoma, is caused by a mutation in the R337H TP53 tetramerisation domain and is attributed to a familial founder effect. Adrenocortical carcinoma is considered an aggressive neoplasm, usually of poor prognosis and is generally unresponsive to systemic chemotherapy. Optimal treatment regimens remain to be established. We report the case of a young woman with metastatic adrenocortical carcinoma, who achieved stable disease with mitotane, cisplatin, doxorubicin, and etoposide as first-line therapy, but then had an objective response to oral metformin that lasted 9 months. The presence of the R337H TP53 mutation suggests a mechanism for the observed response to metformin.

scholarly journals Lung adenocarcinoma in a patient with Li–Fraumeni syndrome bearing a novel germ-line mutation, TP53R333Vfs*12

2020 ◽  
Vol 50 (10) ◽  
pp. 1214-1217 ◽  
Author(s):  
Shodai Takahashi ◽  
Kazuhiro Shimazu ◽  
Koya Kodama ◽  
Koji Fukuda ◽  
Taichi Yoshida ◽  
...  
Keyword(s):  
Bone Metastasis ◽  
Lung Adenocarcinoma ◽  
Egfr Mutation ◽  
Kinase Inhibitor ◽  
Germ Line ◽  
Growth Factor Receptor ◽  
Triple Mutant ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Egfr Tki

Abstract Germline mutations of TP53 are responsible for Li–Fraumeni syndrome in its 60–80%. We found a novel germline mutation, TP53: c.997del:p.R333Vfs*12 (NM_000546.6, GRCh, 17:7670713..7670713). The proband is a 40-year-old female, who was suffered from osteosarcoma in her right forearm at her age of 11. She was also suffered from lung adenocarcinoma in her right upper lobe and bone metastasis in her right scapula at her age of 37. She was treated with gefitinib, an epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) because of EGFR mutation (L747-S752 del). Her bone metastasis became resistant after 1-year treatment. Bone metastasis had an additional EGFR mutation (T790M). The secondary treatment with osimertinib, an another EGFR-TKI, can successfully control the tumors for over 2 years. This TP53 mutation (R333Vfs*12) was first found in lung adenocarcinomas. The therapeutic effect of osimertinib for this triple mutant lung adenocarcinoma is better than the previous report.

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