MeSH Review:
Li-Fraumeni Syndrome
- Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Srivastava, S., Zou, Z.Q., Pirollo, K., Blattner, W., Chang, E.H. Nature (1990)
- Germline p53 gene mutations in subsets of glioma patients. Kyritsis, A.P., Bondy, M.L., Xiao, M., Berman, E.L., Cunningham, J.E., Lee, P.S., Levin, V.A., Saya, H. J. Natl. Cancer Inst. (1994)
- Met proto-oncogene product is overexpressed in tumors of p53-deficient mice and tumors of Li-Fraumeni patients. Rong, S., Donehower, L.A., Hansen, M.F., Strong, L., Tainsky, M., Jeffers, M., Resau, J.H., Hudson, E., Tsarfaty, I., Vande Woude, G.F. Cancer Res. (1995)
- Genetic interactions between atm and p53 influence cellular proliferation and irradiation-induced cell cycle checkpoints. Westphal, C.H., Schmaltz, C., Rowan, S., Elson, A., Fisher, D.E., Leder, P. Cancer Res. (1997)
- Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome. Kuperwasser, C., Hurlbut, G.D., Kittrell, F.S., Dickinson, E.S., Laucirica, R., Medina, D., Naber, S.P., Jerry, D.J. Am. J. Pathol. (2000)
- Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. Olive, K.P., Tuveson, D.A., Ruhe, Z.C., Yin, B., Willis, N.A., Bronson, R.T., Crowley, D., Jacks, T. Cell (2004)
- Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. Lang, G.A., Iwakuma, T., Suh, Y.A., Liu, G., Rao, V.A., Parant, J.M., Valentin-Vega, Y.A., Terzian, T., Caldwell, L.C., Strong, L.C., El-Naggar, A.K., Lozano, G. Cell (2004)
- High frequency of germline p53 mutations in childhood adrenocortical cancer. Wagner, J., Portwine, C., Rabin, K., Leclerc, J.M., Narod, S.A., Malkin, D. J. Natl. Cancer Inst. (1994)
- Chk2 is a tumor suppressor that regulates apoptosis in both an ataxia telangiectasia mutated (ATM)-dependent and an ATM-independent manner. Hirao, A., Cheung, A., Duncan, G., Girard, P.M., Elia, A.J., Wakeham, A., Okada, H., Sarkissian, T., Wong, J.A., Sakai, T., De Stanchina, E., Bristow, R.G., Suda, T., Lowe, S.W., Jeggo, P.A., Elledge, S.J., Mak, T.W. Mol. Cell. Biol. (2002)
- Expression of wild-type p53 is required for efficient global genomic nucleotide excision repair in UV-irradiated human fibroblasts. Ford, J.M., Hanawalt, P.C. J. Biol. Chem. (1997)
- Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report. Anensen, N., Skavland, J., Stapnes, C., Ryningen, A., Børresen-Dale, A.L., Gjertsen, B.T., Bruserud, Ø. Leukemia (2006)
- Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation. Schwarz, J.K., Lovly, C.M., Piwnica-Worms, H. Mol. Cancer Res. (2003)
- Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. Toguchida, J., Yamaguchi, T., Dayton, S.H., Beauchamp, R.L., Herrera, G.E., Ishizaki, K., Yamamuro, T., Meyers, P.A., Little, J.B., Sasaki, M.S. N. Engl. J. Med. (1992)
- Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts. Rogan, E.M., Bryan, T.M., Hukku, B., Maclean, K., Chang, A.C., Moy, E.L., Englezou, A., Warneford, S.G., Dalla-Pozza, L., Reddel, R.R. Mol. Cell. Biol. (1995)
- Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Lee, S.B., Kim, S.H., Bell, D.W., Wahrer, D.C., Schiripo, T.A., Jorczak, M.M., Sgroi, D.C., Garber, J.E., Li, F.P., Nichols, K.E., Varley, J.M., Godwin, A.K., Shannon, K.M., Harlow, E., Haber, D.A. Cancer Res. (2001)
- Complex replication error causes p53 mutation in a Li-Fraumeni family. Strauss, E.A., Hosler, M.R., Herzog, P., Salhany, K., Louie, R., Felix, C.A. Cancer Res. (1995)
- RNA polymerase III transcription can be derepressed by oncogenes or mutations that compromise p53 function in tumours and Li-Fraumeni syndrome. Stein, T., Crighton, D., Boyle, J.M., Varley, J.M., White, R.J. Oncogene (2002)
- A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla. Patrikidou, A., Bennett, J., Abou-Sleiman, P., Delhanty, J.D., Harris, M. Oral Oncol. (2002)
- Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain. Blackburn, A.C., McLary, S.C., Naeem, R., Luszcz, J., Stockton, D.W., Donehower, L.A., Mohammed, M., Mailhes, J.B., Soferr, T., Naber, S.P., Otis, C.N., Jerry, D.J. Cancer Res. (2004)
- Sustained activation of the extracellular signal-regulated kinase pathway protects cells from photofrin-mediated photodynamic therapy. Tong, Z., Singh, G., Rainbow, A.J. Cancer Res. (2002)
- Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Bougeard, G., Brugières, L., Chompret, A., Gesta, P., Charbonnier, F., Valent, A., Martin, C., Raux, G., Feunteun, J., Bressac-de Paillerets, B., Frébourg, T. Oncogene (2003)
- Alternative splicing and mutation status of CHEK2 in stage III breast cancer. Staalesen, V., Falck, J., Geisler, S., Bartkova, J., Børresen-Dale, A.L., Lukas, J., Lillehaug, J.R., Bartek, J., Lønning, P.E. Oncogene (2004)
- Telomerase activity during spontaneous immortalization of Li-Fraumeni syndrome skin fibroblasts. Gollahon, L.S., Kraus, E., Wu, T.A., Yim, S.O., Strong, L.C., Shay, J.W., Tainsky, M.A. Oncogene (1998)
- The p53-deficient mouse: a model for basic and applied cancer studies. Donehower, L.A. Semin. Cancer Biol. (1996)