The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer.

Recent work has identified a mouse gene (tsg101) whose inactivation in fibroblasts results in cellular transformation and the ability to produce metastatic tumors in nude mice. Here, we report that the human homolog, TSG101, which we isolated and mapped to chromosome 11, bands 15.1-15.2, a region proposed to contain tumor suppressor gene(s), is mutated at high frequency in human breast cancer. In 7 of 15 uncultured primary human breast carcinomas, intragenic deletions were shown in TSG101 genomic DNA and transcripts by gel and sequence analysis, and mutations affecting two TSG101 alleles were identified in four of these cancers. No TSG101 defects were found in matched normal breast tissue from the breast cancer patients. These findings strongly implicate TSG101 mutations in human breast cancer.