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Diagnosis and Management of Hereditary Sarcoma


Sarcomas are rare and heterogeneous diseases that affect a younger population than most epithelial cancers. Epidemiologic studies suggest a strong genetic component to sarcomas, and many familial cancer syndromes have been described, in which sarcomas are a feature. The best known of these are the Li-Fraumeni and retinoblastoma syndromes, study of which has been pivotal to elucidating the molecular basis for the cell response to DNA damage and the cell division. Although much has been learnt about cancer biology from the study of sarcoma families, in general clinical management of increased sarcoma risk has lagged behind other cancer predisposition syndromes. With the advent of genomic tools for genetic testing, it is likely that a substantial fraction of sarcoma patients will be identified as carriers of known risk alleles. The translation of this knowledge into effective risk management programs and cancer treatments will be essential to changes in routine clinical practice.

Type Journal
ISBN 0080-0015 (Print) 0080-0015 (Linking)
Authors Thomas, D. M.; Ballinger, M. L.;
Publisher Name Recent Results Cancer Res
Published Date 2016-01-01
Published Volume 205
Published Pages 169-89
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version