Trait

Cancer of connective tissue

Clinical name: Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.

HPO HP:0100242

Also called: Malignant connective tissue tumor, Malignant connective tissue tumour
Body system: Abnormal tissue mass

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18 genes linked to Cancer of connective tissue

Changes in these genes cause rare conditions in which Cancer of connective tissue is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
BMPR1Bbone morphogenetic protein receptor type 1B	Very often (80–99%)	In 1 condition
EWSR1EWS RNA binding protein 1	Very often (80–99%)	In 1 condition
GDF5growth differentiation factor 5	Very often (80–99%)	In 1 condition
KITKIT proto-oncogene, receptor tyrosine kinase	Very often (80–99%)	In 1 condition
NOTCH3notch receptor 3	Very often (80–99%)	In 1 condition
PDGFRAplatelet derived growth factor receptor alpha	Very often (80–99%)	In 1 condition
PDGFRBplatelet derived growth factor receptor beta	Very often (80–99%)	In 1 condition
SDHAsuccinate dehydrogenase complex flavoprotein subunit A	Very often (80–99%)	In 1 condition
SDHBsuccinate dehydrogenase complex iron sulfur subunit B	Very often (80–99%)	In 1 condition
SDHCsuccinate dehydrogenase complex subunit C	Very often (80–99%)	In 1 condition
WT1WT1 transcription factor	Very often (80–99%)	In 1 condition
GNASGNAS complex locus	Sometimes (5–29%)	In 1 condition
IDH1isocitrate dehydrogenase (NADP(+)) 1	Sometimes (5–29%)	In 2 conditions
IDH2isocitrate dehydrogenase (NADP(+)) 2	Sometimes (5–29%)	In 2 conditions
PTH1Rparathyroid hormone 1 receptor	Sometimes (5–29%)	In 1 condition
WRNWRN RecQ like helicase	Sometimes (5–29%)	In 1 condition
CDKN2Acyclin dependent kinase inhibitor 2A	Not recorded	In 1 condition
CHEK2checkpoint kinase 2	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Neoplasm by histology

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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