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Research at Siteman

Cancer is caused by mutations in genes that control cell growth and the repair of damaged genes. Despite great strides made in understanding cancer development, many questions remain about the particular genetic culprits involved in different cancers. Investigators at Washington University School of Medicine and the Siteman Cancer Center are helping to fill in the gaps while providing better tests to detect rare inherited cancers that result from a few genes.

One such effort resulted in the identification of the RET gene responsible for an inherited cancer syndrome called multiple endocrine neoplasia type 2, or MEN2. When mutated, the gene causes tumors in the thyroid gland and other endocrine glands. Researchers at Washington University School of Medicine, along with one other international group, identified the MEN2 gene in 1993. Less than a year later, scientists announced the successful development of a genetic test for MEN2 mutations. It allows families at risk for these cancers to know which members carry the mutations and would therefore benefit from thyroid removal.

Studies of genes that play a significant role in more common cancers also are under way at Siteman, and the hunt has begun for genes that play lesser roles in common cancers with complex genetic pedigrees. This includes research in the following areas:

  • Breast cancer in young women
  • Nervous system tumors, particularly the disorders neurofibromatosis 1 and 2
  • Multiple endocrine neoplasia type 1 (MEN1), a familial cancer syndrome related to the development of tumors of the pancreas and duodenum as well as other endocrine gland tumors
  • Helicobacter pylori, a bacterium that is a risk factor for gastric cancer
  • Endometrial (uterine) cancer
  • Childhood cancer predisposition syndromes