Identification of Tumor Suppressor (LOH18CR) on Chromosome 18
We have identified and studied a family with familial Paget’s disease of bone and Pagetoid osteosarcoma. A familial pattern is extremely unusual and indicates the presence of a putative germline mutation in a tumor suppressor gene involved in osteosarcoma. We have demonstrated loss of heterozygosity for markers located on the long arm of chromosome 18q which includes a 530 kb critical region defined by others, which is believed to contain an osteosarcoma tumor suppressor gene. We wish to sequence candidate genes in, close to this region or otherwise implicated, in order to identify a pathogenic mutation, and thus the tumor suppressor gene.