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A common single nucleotide variant in T is strongly associated with chordoma

Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in cancer genetics.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000188 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000075013 bam 7.7 GB
EGAF00000075015 bam 7.9 GB
EGAF00000075018 bam 8.4 GB
EGAF00000075019 bam 2.6 GB
EGAF00000075020 bam 2.7 GB
EGAF00000075022 bam 3.8 GB
EGAF00000075023 bam 3.8 GB
EGAF00000075024 bam 5.0 GB
EGAF00000075026 bam 4.4 GB
EGAF00000075027 bam 3.6 GB
EGAF00000075033 bam 9.8 GB
EGAF00000075034 bam 13.2 GB
EGAF00000075035 bam 3.4 GB
EGAF00000075036 bam 3.3 GB
EGAF00000075040 bam 1.4 GB
EGAF00000075041 bam 4.0 GB
EGAF00000075048 bam 7.9 GB
EGAF00000075049 bam 8.0 GB
EGAF00000075050 bam 8.7 GB
EGAF00000075052 bam 4.2 GB
EGAF00000075053 bam 4.5 GB
EGAF00000075055 bam 7.1 GB
EGAF00000075060 bam 7.8 GB
EGAF00000075068 bam 7.4 GB
24 Files (140.5 GB)