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Science 30 November 1990: Vol. 250. no. 4985, pp. 1233 - 1238 DOI: 10.1126/science.1978757
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Articles
Science, Vol 250, Issue 4985, 1233-1238
Copyright © 1990 by American Association for the Advancement of Science
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
D Malkin,
FP Li,
LC Strong,
JF Fraumeni Jr,
CE Nelson,
DH Kim,
J Kassel,
MA Gryka,
FZ Bischoff,
MA Tainsky,
and
al. et
Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown 02129.
Familial cancer syndromes have helped to define the role of tumor suppressor genes in the development of cancer. The dominantly inherited Li-Fraumeni syndrome (LFS) is of particular interest because of the diversity of childhood and adult tumors that occur in affected individuals. The rarity and high mortality of LFS precluded formal linkage analysis. The alternative approach was to select the most plausible candidate gene. The tumor suppressor gene, p53, was studied because of previous indications that this gene is inactivated in the sporadic (nonfamilial) forms of most cancers that are associated with LFS. Germ line p53 mutations have been detected in all five LFS families analyzed. These mutations do not produce amounts of mutant p53 protein expected to exert a trans-dominant loss of function effect on wild-type p53 protein. The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.
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- Germ Line BAX Alterations Are Infrequent in Li-Fraumeni Syndrome.
- J. W. Barlow, M. Mous, J. C. Wiley, J. M. Varley, G. Lozano, L. C. Strong, and D. Malkin (2004)
Cancer Epidemiol. Biomarkers Prev.
13, 1403-1406
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- Oncogenes and Tumor Suppressor Genes in Breast Cancer: Potential Diagnostic and Therapeutic Applications.
- C. Osborne, P. Wilson, and D. Tripathy (2004)
Oncologist
9, 361-377
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- Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients.
- G Keller, H Vogelsang, I Becker, S Plaschke, K Ott, G Suriano, A R Mateus, R Seruca, K Biedermann, D Huntsman, et al. (2004)
J. Med. Genet.
41, e89
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- Collaboration of Brca1 and Chk2 in tumorigenesis.
- J. P. McPherson, B. Lemmers, A. Hirao, A. Hakem, J. Abraham, E. Migon, E. Matysiak-Zablocki, L. Tamblyn, O. Sanchez-Sweatman, R. Khokha, et al. (2004)
Genes & Dev.
18, 1144-1153
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- Sex steroidal regulation of uterine leiomyoma growth and apoptosis.
- T. Maruo, N. Ohara, J. Wang, and H. Matsuo (2004)
Hum. Reprod. Update
10, 207-220
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- Genetic Predisposition to Lung Cancer.
- A. G. Schwartz (2004)
Chest
125, 86S-89S
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- Predictive Models for Breast Cancer Susceptibility from Multiple Single Nucleotide Polymorphisms.
- J. Listgarten, S. Damaraju, B. Poulin, L. Cook, J. Dufour, A. Driga, J. Mackey, D. Wishart, R. Greiner, and B. Zanke (2004)
Clin. Cancer Res.
10, 2725-2737
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- Recognition and Management of Hereditary Breast Cancer Syndromes.
- D. L. Thull and V. G. Vogel (2004)
Oncologist
9, 13-24
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- Biology of Childhood Osteogenic Sarcoma and Potential Targets for Therapeutic Development: Meeting Summary.
- R. Gorlick, P. Anderson, I. Andrulis, C. Arndt, G. P. Beardsley, M. Bernstein, J. Bridge, N.-K. Cheung, J. S. Dome, D. Ebb, et al. (2003)
Clin. Cancer Res.
9, 5442-5453
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- Immunohistochemical Expression of p53, Fibroblast Growth Factor-b, and Transforming Growth Factor-{alpha} in Feline Vaccine-associated Sarcomas.
- A. Nieto, M. A. Sanchez, E. Martinez, and E. Rollan (2003)
Vet. Pathol.
40, 651-658
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- Li-Fraumeni and Related Syndromes: Correlation between Tumor Type, Family Structure, and TP53 Genotype.
- M. Olivier, D. E. Goldgar, N. Sodha, H. Ohgaki, P. Kleihues, P. Hainaut, and R. A. Eeles (2003)
Cancer Res.
63, 6643-6650
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- Rad53 Phosphorylation Site Clusters Are Important for Rad53 Regulation and Signaling.
- S.-J. Lee, M. F. Schwartz, J. K. Duong, and D. F. Stern (2003)
Mol. Cell. Biol.
23, 6300-6314
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- {alpha}-Galactosylceramide (KRN7000) suppression of chemical- and oncogene-dependent carcinogenesis.
- Y. Hayakawa, S. Rovero, G. Forni, and M. J. Smyth (2003)
PNAS
100, 9464-9469
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- Paradoxical Upregulation of Tumor Suppressor Protein p53 in Serum-Stimulated Vascular Smooth Muscle Cells: A Novel Negative-Feedback Regulatory Mechanism.
- Z. H. Mnjoyan, R. Dutta, D. Zhang, B.-B. Teng, and K. Fujise (2003)
Circulation
108, 464-471
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- A Role for the Phosphorylation of hRad9 in Checkpoint Signaling.
- R. P. St.Onge, B. D. A. Besley, J. L. Pelley, and S. Davey (2003)
J. Biol. Chem.
278, 26620-26628
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- Reovirus Prolongs Survival and Reduces the Frequency of Spinal and Leptomeningeal Metastases from Medulloblastoma.
- W. Q. Yang, D. Senger, H. Muzik, Z. Q. Shi, D. Johnson, P. M. A. Brasher, N. B. Rewcastle, M. Hamilton, J. Rutka, J. Wolff, et al. (2003)
Cancer Res.
63, 3162-3172
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- Activin Induces x-Zone Apoptosis That Inhibits Luteinizing Hormone-Dependent Adrenocortical Tumor Formation in Inhibin-Deficient Mice.
- F. Beuschlein, B. D. Looyenga, S. E. Bleasdale, C. Mutch, D. L. Bavers, A. F. Parlow, J. H. Nilson, and G. D. Hammer (2003)
Mol. Cell. Biol.
23, 3951-3964
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- Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?.
- A-M Martin, P A Kanetsky, B Amirimani, T A Colligon, G Athanasiadis, H A Shih, M R Gerrero, K Calzone, T R Rebbeck, and B L Weber (2003)
J. Med. Genet.
40, e34-34
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- Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families.
- A N A Monteiro, S Zhang, C M Phelan, and S A Narod (2003)
J. Med. Genet.
40, e51-51
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- A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours.
- M Miyaki, T Iijima, M Ohue, Y Kita, T Hishima, T Kuroki, T Iwama, and T Mori (2003)
Gut
52, 304-306
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- Psychosocial Predictors of BRCA Counseling and Testing Decisions among Urban African-American Women.
- H. S. Thompson, H. B. Valdimarsdottir, C. Duteau-Buck, J. Guevarra, D. H. Bovbjerg, C. Richmond-Avellaneda, D. Amarel, D. Godfrey, K. Brown, and K. Offit (2002)
Cancer Epidemiol. Biomarkers Prev.
11, 1579-1585
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- The Molecular Pathogenesis of Hereditary and Sporadic Adrenocortical and Adrenomedullary Tumors.
- C. A. Koch, K. Pacak, and G. P. Chrousos (2002)
J. Clin. Endocrinol. Metab.
87, 5367-5384
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- Risk assessment and management of high risk familial breast cancer.
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J. Med. Genet.
39, 865-871
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- Gene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53.
- H. Yoon, S. Liyanarachchi, F. A. Wright, R. Davuluri, J. C. Lockman, A. de la Chapelle, and N. S. Pellegata (2002)
PNAS
99, 15632-15637
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