Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms

• David Malkin

  Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, MGH East, Charlestown MA 02129.

• Frederick P. Li

  Clinical Epidemiology Branch, Division of Cancer Etiology, NCI, NIH, Bethesda MD, 20892 and in the Division of Biostatistics and Epidemiology, Dana-Farber Cancer Institute, Boston, MA, 02115.

• Louise C. Strong

  Division of Pediatrics, University of Texas M. D. Anderson Cancer Center, Houston, TX 77030.

• Joseph F. Fraumeni

  Epidemiology and Biostatistics Program, Division of Cancer Etiology, NCI, NIH, Bethesda MD, 20892.

• Camille E. Nelson

  Clinical Epidemiology Branch, Division of Cancer Etiology, NCI, NIH, Bethesda MD, 20892 and in the Division of Biostatistics and Epidemiology, Dana-Farber Cancer Institute, Boston, MA, 02115.

• David H. Kim

  Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, MGH East, Charlestown MA 02129.

• Jayne Kassel

  Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, MGH East, Charlestown MA 02129.

• Magdalena A. Gryka

  Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, MGH East, Charlestown MA 02129.

• Farideh Z. Bischoff

  Department of Tumor Biology, University of Texas M. D. Anderson Cancer Center, Houston TX, 77030.

• Michael A. Tainsky

  Department of Tumor Biology, University of Texas M. D. Anderson Cancer Center, Houston TX, 77030.

• Stephen H. Friend

  Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, MGH East, Charlestown MA 02129.

抄録

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.

収録刊行物

• Science

  Science 250 (4985), 1233-1238, 1990-11-30

  American Association for the Advancement of Science (AAAS)

キーワード

• Multidisciplinary

詳細情報

• CRID: 1361418518920448640
• NII論文ID: 80005612867
• DOI: 10.1126/science.1978757
• ISSN: 10959203
• ISSN: 00368075
• ISSN: http://id.crossref.org/issn/00368075
• Web Site: https://www.science.org/doi/pdf/10.1126/science.1978757
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