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. 1992 May 1;89(9):4207–4209. doi: 10.1073/pnas.89.9.4207

Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma.

A Iavarone 1, K K Matthay 1, T M Steinkirchner 1, M A Israel 1
PMCID: PMC525662  PMID: 1349175

Abstract

Multifocal osteogenic sarcoma patients without familial histories of increased tumor predisposition were examined for mutations in the highly conserved regions of the p53 gene. p53 point mutations were found in tumor DNA from each of the four patients we examined. A germ-line p53 mutation was detected in one of these patients, and a further rearrangement of the residual wild-type allele was detected in tumor tissue. p53 germ-line mutations can contribute to the enhanced predisposition to tumor development manifest in patients with multifocal osteosarcoma.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Baker S. J., Preisinger A. C., Jessup J. M., Paraskeva C., Markowitz S., Willson J. K., Hamilton S., Vogelstein B. p53 gene mutations occur in combination with 17p allelic deletions as late events in colorectal tumorigenesis. Cancer Res. 1990 Dec 1;50(23):7717–7722. [PubMed] [Google Scholar]
  2. Carbone D., Chiba I., Mitsudomi T. Polymorphism at codon 213 within the p53 gene. Oncogene. 1991 Sep;6(9):1691–1692. [PubMed] [Google Scholar]
  3. Curtis R. E., Boice J. D., Jr, Kleinerman R. A., Flannery J. T., Fraumeni J. F., Jr Summary: multiple primary cancers in Connecticut, 1935-82. Natl Cancer Inst Monogr. 1985 Dec;68:219–242. [PubMed] [Google Scholar]
  4. Fitzgerald R. H., Jr, Dahlin D. C., Sim F. H. Multiple metachronous osteogenic sarcoma. Report of twelve cases with two long-term survivors. J Bone Joint Surg Am. 1973 Apr;55(3):595–605. [PubMed] [Google Scholar]
  5. Hansen M. F., Cavenee W. K. Genetics of cancer predisposition. Cancer Res. 1987 Nov 1;47(21):5518–5527. [PubMed] [Google Scholar]
  6. Hollstein M., Sidransky D., Vogelstein B., Harris C. C. p53 mutations in human cancers. Science. 1991 Jul 5;253(5015):49–53. doi: 10.1126/science.1905840. [DOI] [PubMed] [Google Scholar]
  7. Hopper K. D., Moser R. P., Jr, Haseman D. B., Sweet D. E., Madewell J. E., Kransdorf M. J. Osteosarcomatosis. Radiology. 1990 Apr;175(1):233–239. doi: 10.1148/radiology.175.1.2315487. [DOI] [PubMed] [Google Scholar]
  8. Kloss K., Währisch P., Greger V., Messmer E., Fritze H., Höpping W., Passarge E., Horsthemke B. Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma. Am J Med Genet. 1991 May 1;39(2):196–200. doi: 10.1002/ajmg.1320390215. [DOI] [PubMed] [Google Scholar]
  9. Knudson A. G., Jr, Hethcote H. W., Brown B. W. Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc Natl Acad Sci U S A. 1975 Dec;72(12):5116–5120. doi: 10.1073/pnas.72.12.5116. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Lavigueur A., Maltby V., Mock D., Rossant J., Pawson T., Bernstein A. High incidence of lung, bone, and lymphoid tumors in transgenic mice overexpressing mutant alleles of the p53 oncogene. Mol Cell Biol. 1989 Sep;9(9):3982–3991. doi: 10.1128/mcb.9.9.3982. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Li F. P., Fraumeni J. F., Jr Prospective study of a family cancer syndrome. JAMA. 1982 May 21;247(19):2692–2694. [PubMed] [Google Scholar]
  12. Mahoney J. P., Spanier S. S., Morris J. L. Multifocal osteosarcoma: a case report with review of the literature. Cancer. 1979 Nov;44(5):1897–1907. doi: 10.1002/1097-0142(197911)44:5<1897::aid-cncr2820440552>3.0.co;2-2. [DOI] [PubMed] [Google Scholar]
  13. 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]
  14. Masuda H., Miller C., Koeffler H. P., Battifora H., Cline M. J. Rearrangement of the p53 gene in human osteogenic sarcomas. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7716–7719. doi: 10.1073/pnas.84.21.7716. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Miller C. W., Aslo A., Tsay C., Slamon D., Ishizaki K., Toguchida J., Yamamuro T., Lampkin B., Koeffler H. P. Frequency and structure of p53 rearrangements in human osteosarcoma. Cancer Res. 1990 Dec 15;50(24):7950–7954. [PubMed] [Google Scholar]
  16. Mulligan L. M., Matlashewski G. J., Scrable H. J., Cavenee W. K. Mechanisms of p53 loss in human sarcomas. Proc Natl Acad Sci U S A. 1990 Aug;87(15):5863–5867. doi: 10.1073/pnas.87.15.5863. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Nigro J. M., Baker S. J., Preisinger A. C., Jessup J. M., Hostetter R., Cleary K., Bigner S. H., Davidson N., Baylin S., Devilee P. Mutations in the p53 gene occur in diverse human tumour types. Nature. 1989 Dec 7;342(6250):705–708. doi: 10.1038/342705a0. [DOI] [PubMed] [Google Scholar]
  18. Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 1989 Nov;5(4):874–879. doi: 10.1016/0888-7543(89)90129-8. [DOI] [PubMed] [Google Scholar]
  19. Parham D. M., Pratt C. B., Parvey L. S., Webber B. L., Champion J. Childhood multifocal osteosarcoma. Clinicopathologic and radiologic correlates. Cancer. 1985 Jun 1;55(11):2653–2658. doi: 10.1002/1097-0142(19850601)55:11<2653::aid-cncr2820551121>3.0.co;2-a. [DOI] [PubMed] [Google Scholar]
  20. Rogers B. B., Alpert L. C., Hine E. A., Buffone G. J. Analysis of DNA in fresh and fixed tissue by the polymerase chain reaction. Am J Pathol. 1990 Mar;136(3):541–548. [PMC free article] [PubMed] [Google Scholar]
  21. Soussi T., Caron de Fromentel C., May P. Structural aspects of the p53 protein in relation to gene evolution. Oncogene. 1990 Jul;5(7):945–952. [PubMed] [Google Scholar]
  22. 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]
  23. Yandell D. W., Campbell T. A., Dayton S. H., Petersen R., Walton D., Little J. B., McConkie-Rosell A., Buckley E. G., Dryja T. P. Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med. 1989 Dec 21;321(25):1689–1695. doi: 10.1056/NEJM198912213212501. [DOI] [PubMed] [Google Scholar]

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