Keynote lecture. The familial syndrome of sarcomas and other neoplasms.

Observation of one kindred with sarcoma, breast cancer and other neoplasms has led to the recognition of a familial cancer syndrome in young patients. To date, 24 affected families have been enrolled in the Cancer Family Registry of the National Cancer Institute, and 21 others have been reported in the literature. The major feature of the syndrome is an autosomal dominant pattern of breast cancers and sarcomas of bone and soft tissue at unusually early ages. Additional components of the syndrome appear to be brain tumors, leukemia, and adrenocortical carcinoma in children and adolescents. Family members are prone to develop multiple primary cancer. In addition to descriptive reports, the syndrome has been detected in segregation analysis of a consecutive series of children with soft tissue sarcomas; in studies of breast cancer among mothers of unselected children with sarcomas; and in prospective observation for new cancers in our previously reported families. Laboratory studies are in progress to seek the gene(s) associated with this syndrome of diverse cancers. Studies of this rare disorder may provide new insights into the pathogenesis of the 5 component tumors, particularly breast cancer, the commonest cancer among women in the United States and elsewhere.