PMID- 2918936 OWN - NLM STAT- MEDLINE DCOM- 19890405 LR - 20061115 IS - 0028-0836 (Print) IS - 0028-0836 (Linking) VI - 338 IP - 6211 DP - 1989 Mar 9 TI - Preferential mutation of paternally derived RB gene as the initial event in sporadic osteosarcoma. PG - 156-8 AB - Successive loss of function of both alleles of the retinoblastoma susceptibility gene (RB) on human chromosome 13 seems to be critical in the development of retinoblastoma and osteosarcoma. In cases where the tumour is familial and susceptibility is inherited, a mutation in one of the alleles is carried in the germline. We have recently shown that cytogenetically visible germline mutations are usually in the paternally derived gene. Such a bias would not be expected for sporadic (non-familial) tumours, where both mutations occur in somatic tissue, but there has been some indication of a bias towards initial somatic mutation in the paternally derived gene on chromosome 11 in sporadic Wilms tumour. We have now examined 13 sporadic osteosarcomas and find evidence which indicates that in 12 cases the initial mutation was in the paternal gene, suggesting the involvement of germinal imprinting in producing the differential susceptibility of the two genes to mutation. FAU - Toguchida, J AU - Toguchida J AD - Radiation Biology Center, Faculty of Medicine, Kyoto University, Japan. FAU - Ishizaki, K AU - Ishizaki K FAU - Sasaki, M S AU - Sasaki MS FAU - Nakamura, Y AU - Nakamura Y FAU - Ikenaga, M AU - Ikenaga M FAU - Kato, M AU - Kato M FAU - Sugimot, M AU - Sugimot M FAU - Kotoura, Y AU - Kotoura Y FAU - Yamamuro, T AU - Yamamuro T LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Nature JT - Nature JID - 0410462 SB - IM MH - Blotting, Southern MH - *Chromosomes, Human, Pair 13 MH - Humans MH - Mutation MH - Osteosarcoma/*genetics MH - Retinoblastoma/*genetics EDAT- 1989/03/09 00:00 MHDA- 1989/03/09 00:01 CRDT- 1989/03/09 00:00 PHST- 1989/03/09 00:00 [pubmed] PHST- 1989/03/09 00:01 [medline] PHST- 1989/03/09 00:00 [entrez] AID - 10.1038/338156a0 [doi] PST - ppublish SO - Nature. 1989 Mar 9;338(6211):156-8. doi: 10.1038/338156a0.