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Identification of predisposition genes for Ewing sarcoma segregating in high-risk pedigrees

Huntsman Cancer Institute
Lisa Cannon-Albright, PhD
Grant Type: 
Innovation Grants
Year Awarded: 
Type of Childhood Cancer: 
Ewing Sarcoma
Project Description: 

Using a unique and powerful resource that combines genealogy from the 1800s with statewide cancer reporting from 1966 (the Utah Population Database or UPDB), we have identified very large families that have more cases of Ewing's Sarcoma than would be expected given the low rates of this cancer; we call these high-risk Ewing's Sarcoma pedigrees.  The Ewing's Sarcoma cases in these families may all share a genetic change that they all inherited from a common ancestor, who is responsible for their cancer. We will collect DNA samples from Ewing's Sarcoma cancer cases in these families, and we will collect DNA samples from stored tissue samples from members of these families to look for the genes responsible for the cancers in these families. We will identify about 1 million different genetic data points for each case, representing every location on all of their chromosomes.  We will look for regions on any chromosome where related Ewing's Sarcoma cases share the same genetic data points, indicating that the region of the chromosome was inherited from a common ancestor. The identification of gene changes that are associated with increased ES risk could allow better screening, early diagnosis, and reduced illness and death in these high risk families.  A high-risk pedigree study for Ewing's Sarcoma has never been done.  This proposal represents a clever and efficient use of existing Utah resources to test a new idea about Ewing's Sarcomas that occur in families.