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Journal of Clinical Pathology logoLink to Journal of Clinical Pathology
. 1993 Jul;46(7):676–677. doi: 10.1136/jcp.46.7.676

p53 expression in three separate tumours from a patient with Li-Fraumeni's syndrome.

P King 1, A W Craft 1, A J Malcolm 1
PMCID: PMC501403  PMID: 8157761

Abstract

The Li-Fraumeni cancer syndrome is a rare autosomal dominant syndrome, characterised by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites. It has recently been shown that some of these individuals have a germ line mutation of the p53 tumour suppressor gene. The case of one member of such a family who has now developed three separate primary malignant tumours is reported. All three tumours expressed mutant p53 protein.

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Selected References

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  1. Li F. P., Fraumeni J. F., Jr Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med. 1969 Oct;71(4):747–752. doi: 10.7326/0003-4819-71-4-747. [DOI] [PubMed] [Google Scholar]
  2. Malkin D., Li F. P., Strong L. C., Fraumeni J. F., Jr, Nelson C. E., Kim D. H., Kassel J., Gryka M. A., Bischoff F. Z., Tainsky M. A. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990 Nov 30;250(4985):1233–1238. doi: 10.1126/science.1978757. [DOI] [PubMed] [Google Scholar]
  3. Pearson A. D., Craft A. W., Ratcliffe J. M., Birch J. M., Morris-Jones P., Roberts D. F. Two families with the Li-Fraumeni cancer family syndrome. J Med Genet. 1982 Oct;19(5):362–365. doi: 10.1136/jmg.19.5.362. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Santibáez-Koref M. F., Birch J. M., Hartley A. L., Jones P. H., Craft A. W., Eden T., Crowther D., Kelsey A. M., Harris M. p53 germline mutations in Li-Fraumeni syndrome. Lancet. 1991 Dec 14;338(8781):1490–1491. doi: 10.1016/0140-6736(91)92303-j. [DOI] [PubMed] [Google Scholar]
  5. Srivastava S., Tong Y. A., Devadas K., Zou Z. Q., Sykes V. W., Chen Y., Blattner W. A., Pirollo K., Chang E. H. Detection of both mutant and wild-type p53 protein in normal skin fibroblasts and demonstration of a shared 'second hit' on p53 in diverse tumors from a cancer-prone family with Li-Fraumeni syndrome. Oncogene. 1992 May;7(5):987–991. [PubMed] [Google Scholar]
  6. Srivastava S., Zou Z. Q., Pirollo K., Blattner W., Chang E. H. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature. 1990 Dec 20;348(6303):747–749. doi: 10.1038/348747a0. [DOI] [PubMed] [Google Scholar]

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