ZIA CP005803 - 10562 (ZIA) | |||
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Title | Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Pati | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Goldstein, Alisa | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $88,456 | Project Dates | 08/31/2010 - 00/00/0000 |
Fiscal Year | 2015 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) Cancer (100.0%) |
Brain (40.0%) Sarcoma (20.0%) |
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Research Type | |||
Endogenous Factors in the Origin and Cause of Cancer Interactions of Genes and/or Genetic Polymorphisms with Exogenous and/or Endogenous Factors |
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Abstract | |||
Chordoma is a rare, slow growing, often fatal bone cancer derived from remnants of the embryonic notochord. It occurs mostly in the axial skeleton (skull base, vertebrae, sacrum and coccyx), is more frequent in males than females, and has a median age at diagnosis of 58.5 years, with a wide age range. This typically sporadic tumor is often advanced at presentation, and mortality is high due to local recurrence or distant metastases. Reports of a small number of families worldwide with two or more relatives with chordoma support a role for susceptilility genes in chordoma etiology. Recently we determined that duplications of the T gene co-segregated with disease in four multiplex chordoma families. Some of the other chordoma families that we studied did not have T-gene duplications; the aggregation of chordomas in these families may result from changes in other susceptibility genes or other types of mutations targeting the T gene. We are continuing gene identification studies of multiplex chordoma families under a separate protocol. We are initiating the current protocol because we want to determine whether alterations in any identified chordoma susceptibility genes are associated with sporadic chordoma in the general population. |