Li-Fraumeni Syndrome

Known as: Li-Fraumeni Familial Cancer Susceptibility Syndrome, Li Fraumeni Syndrome, LFS 
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1938-2017
010020030019382016

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Highly Cited
2011
Highly Cited
2011
BACKGROUND Individuals with Li-Fraumeni syndrome have a high lifetime risk of developing cancer. We assessed the feasibility and… (More)
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Highly Cited
2009
Highly Cited
2009
PURPOSE A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53… (More)
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Highly Cited
2004
Highly Cited
2004
The p53 tumor suppressor gene is commonly altered in human tumors, predominantly through missense mutations that result in… (More)
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Highly Cited
2004
Highly Cited
2004
Individuals with Li-Fraumeni syndrome carry inherited mutations in the p53 tumor suppressor gene and are predisposed to tumor… (More)
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2002
2002
Li-Fraumeni syndrome (LFS) has been the most common terminology used for the syndrome. It is a rare familial dominantly inherited… (More)
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Highly Cited
1999
Highly Cited
1999
The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G2 checkpoint kinases, whose activation in response to DNA… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Li-Fraumeni syndrome is a dominantly inherited disorder characterized by early-onset breast cancer, sarcomas, and… (More)
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Highly Cited
1994
Highly Cited
1994
The entire coding sequence of the p53 gene was analysed for the presence of mutations in 12 families conforming to a restricted… (More)
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Highly Cited
1991
Highly Cited
1991
The Li-Fraumeni cancer family syndrome is manifested by susceptibility to breast cancer, sarcomas, and other neoplasms in… (More)
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Highly Cited
1990
Highly Cited
1990
Familial cancer syndromes have helped to define the role of tumor suppressor genes in the development of cancer. The dominantly… (More)
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