Exome Sequencing of Chordoma Cases

Chordoma is a rare tumor that is believed to develop from notochord remnants. We previously identified germline duplication of the TBXT gene as a major susceptibility mechanism in several chordoma families. Currently, we are using whole exome sequencing to identify additional susceptibility genes in chordoma families without TBXT duplication as well as in sporadic cases.]]>
Inclusion Criteria
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
1. Stated willingness to comply with all study procedures and availability for the duration of the study
2. Male or female, at least 6 years old at the time of enrollment
3. Diagnosed with chordoma or related tumor at any age and any primary site
4. Reside in the U.S or Canada
5. Ability of subject or subject’s parent/legal guardian (for minors) to understand and the willingness to sign a written informed consent document.
Exclusion Criteria
Because we want to obtain saliva from all participants, eligibility is limited to patients who will be > age 5 years at the time of enrollment.
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