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Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
Science 1990; 250(4985):1233-8Sci

Abstract

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.

Authors+Show Affiliations

Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown 02129.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

1978757

Citation

Malkin, D, et al. "Germ Line P53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms." Science (New York, N.Y.), vol. 250, no. 4985, 1990, pp. 1233-8.
Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990;250(4985):1233-8.
Malkin, D., Li, F. P., Strong, L. C., Fraumeni, J. F., Nelson, C. E., Kim, D. H., ... Tainsky, M. A. (1990). Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science (New York, N.Y.), 250(4985), pp. 1233-8.
Malkin D, et al. Germ Line P53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms. Science. 1990 Nov 30;250(4985):1233-8. PubMed PMID: 1978757.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. A1 - Malkin,D, AU - Li,F P, AU - Strong,L C, AU - Fraumeni,J F,Jr AU - Nelson,C E, AU - Kim,D H, AU - Kassel,J, AU - Gryka,M A, AU - Bischoff,F Z, AU - Tainsky,M A, PY - 1990/12/10/pubmed PY - 2001/3/28/medline PY - 1990/12/10/entrez SP - 1233 EP - 8 JF - Science (New York, N.Y.) JO - Science VL - 250 IS - 4985 N2 - 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. SN - 0036-8075 UR - https://www.unboundmedicine.com/medline/citation/1978757/full_citation L2 - http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=1978757 DB - PRIME DP - Unbound Medicine ER -