Osteosarcoma and Retinoblastoma: A Shared Chromosomal Mechanism Revealing Recessive Predisposition

Survivors of the heritable form of retinoblastoma subsequently develop second primary osteosarcomas at substantially greater frequency than either the general population or survivors of nonheritable retinoblastoma. Here we present molecular genetic evidence that the development of these two disparat...

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Published inProceedings of the National Academy of Sciences - PNAS Vol. 82; no. 18; pp. 6216 - 6220
Main Authors Hansen, Marc F., Koufos, Alex, Gallie, Brenda L., Phillips, Robert A., Fodstad, Oystein, Brogger, Anton, Gedde-Dahl, Tobias, Cavenee, Webster K.
Format Journal Article
LanguageEnglish
Published Washington, DC National Academy of Sciences of the United States of America 01.09.1985
National Acad Sciences
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Summary:Survivors of the heritable form of retinoblastoma subsequently develop second primary osteosarcomas at substantially greater frequency than either the general population or survivors of nonheritable retinoblastoma. Here we present molecular genetic evidence that the development of these two disparate tumor types involves specific somatic loss of constitutional heterozygosity for the region of human chromosome 13 that includes the RB1 locus. Similar events occur during the genesis of nonheritable osteosarcoma but not in several other embryonal tumors or sarcomas. These findings suggest that a conceptual approach toward defining the number of genes whose recessive mutant forms predispose to cancer is the molecular genetic analysis of clinically associated tumor types. They also suggest that the molecular basis of mixed cancer families may be the differential expression of a single pleiotropic recessive mutation by tissue specific mitotic segregation abnormalities.
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ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.82.18.6216