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

Antonio Iavarone | Zendy; Katherine K. Matthay | Zendy; Terri Steinkirchner | Zendy; Mark A. Israel | Zendy

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

Author(s) -

Antonio Iavarone,

Katherine K. Matthay,

Terri Steinkirchner,

Mark A. Israel

Publication year - 1992

Publication title -

proceedings of the national academy of sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.011

H-Index - 771

eISSN - 1091-6490

pISSN - 0027-8424

DOI - 10.1073/pnas.89.9.4207

Subject(s) - somatic cell , sarcoma , osteosarcoma , biology , germline , mutation , point mutation , germline mutation , cancer research , gene , allele , genetics , pathology , medicine

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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