Bone osteosarcoma: genes and variants
Bone osteosarcoma is linked to 3 analyzed proteins (TP53, CHEK2 and RB1). 5 DNA variants are known to cause it; 68 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Bone osteosarcoma
TP53: Cellular tumor antigen p53
It coordinates transcriptional responses to DNA damage and other cellular stresses, promoting cell-cycle arrest, senescence, DNA repair, or apoptosis when appropriate. Loss of this tumor-suppressive control is one of the most common events in cancer, while germline pathogenic variants cause Li-Fraumeni syndrome.
3 disease-causing and 4 uncertain variants in TP53 are linked to Bone osteosarcoma.
CHEK2: Serine/threonine-protein kinase Chk2
It propagates DNA-damage checkpoint signals to proteins controlling cell-cycle arrest, repair, and apoptosis. Germline loss-of-function variants confer moderate cancer susceptibility, especially for breast cancer, while risk estimates depend on the specific allele and family context.
2 disease-causing and 55 uncertain variants in CHEK2 are linked to Bone osteosarcoma.
RB1: Retinoblastoma-associated protein
It restrains E2F-dependent transcription and prevents inappropriate G1-to-S cell-cycle progression until proliferative signals are appropriate. Loss of function is a fundamental cancer-driving event, while germline pathogenic variants cause hereditary retinoblastoma and increase risk of additional tumors.
0 disease-causing and 9 uncertain variants in RB1 are linked to Bone osteosarcoma.
Known disease-causing variants in Bone osteosarcoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TP53 R267W | 267 | DNA binding | Disease-causing (★★) |
| CHEK2 L236P | 236 | Protein kinase | Disease-causing (★★) |
| TP53 R273L | 273 | DNA binding | Disease-causing (★★) |
| TP53 R282P | 282 | DNA binding | Disease-causing (★★) |
| CHEK2 A17S | 17 | Disease-causing |
Same protein, different disease
- Li-Fraumeni syndrome is also caused by TP53 variants; they fall mostly in different places as the Bone osteosarcoma variants (188 disease-causing).
- Adrenocortical carcinoma, hereditary is also caused by TP53 variants; they fall mostly in different places as the Bone osteosarcoma variants (23 disease-causing).
- Acute myeloid leukemia is also caused by TP53 variants; they fall mostly in different places as the Bone osteosarcoma variants (6 disease-causing).
- Familial cancer of breast is also caused by TP53 variants; they fall partly in the same places as the Bone osteosarcoma variants (5 disease-causing).
- Hereditary breast ovarian cancer syndrome is also caused by TP53 variants; they fall mostly in different places as the Bone osteosarcoma variants (5 disease-causing).
- Familial cancer of breast is also caused by CHEK2 variants; they fall mostly in different places as the Bone osteosarcoma variants (3 disease-causing).
Diseases related to Bone osteosarcoma
- Li-Fraumeni syndrome, also linked to CHEK2 and TP53
- Familial cancer of breast, also linked to CHEK2 and TP53
- Colorectal cancer, also linked to CHEK2 and TP53
- Gastric cancer, also linked to CHEK2 and TP53
- Hereditary breast ovarian cancer syndrome, also linked to CHEK2 and TP53
- Lung adenocarcinoma, also linked to RB1 and TP53
- Hepatocellular carcinoma, also linked to RB1 and TP53
- Breast and/or ovarian cancer, also linked to CHEK2 and TP53
- Acute myeloid leukemia, also linked to TP53
- Retinoblastoma, also linked to RB1
- Adrenocortical carcinoma, hereditary, also linked to TP53
- Malignant tumor of urinary bladder, also linked to RB1
Frequently asked questions
Which genes are linked to Bone osteosarcoma?
In CATVariant, Bone osteosarcoma is linked to 3 analyzed proteins: TP53 (Cellular tumor antigen p53), CHEK2 (Serine/threonine-protein kinase Chk2) and RB1 (Retinoblastoma-associated protein).
How many genetic variants are linked to Bone osteosarcoma?
73 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 68 are of uncertain significance or have conflicting reports.
Which uncertain variants in Bone osteosarcoma look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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