Malignant tumor of testis: genes and variants
Malignant tumor of testis is linked to 3 analyzed proteins (STK11, BCL10 and KIT). 2 DNA variants are known to cause it; 17 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 Malignant tumor of testis
STK11: Serine/threonine-protein kinase STK11
It activates AMPK-family kinases to coordinate cellular energy sensing, polarity, and growth restraint. Germline loss-of-function variants cause Peutz-Jeghers syndrome and its associated cancer predisposition, while somatic loss is common in lung and other cancers.
1 disease-causing and 5 uncertain variants in STK11 are linked to Malignant tumor of testis.
BCL10: B-cell lymphoma/leukemia 10
It forms part of the CARD11-BCL10-MALT1 signaling complex that couples antigen-receptor activation to NF-kappaB signaling in lymphocytes. Biallelic loss can cause combined immunodeficiency, while dysregulated signaling contributes to certain lymphomas.
1 disease-causing and 0 uncertain variants in BCL10 are linked to Malignant tumor of testis.
KIT: Mast/stem cell growth factor receptor Kit
Stem-cell-factor signaling through this pathway supports hematopoietic progenitors, mast cells, melanocytes, and germ cells. Activating variants drive gastrointestinal stromal tumors, systemic mastocytosis, and other malignancies, whereas loss-of-function variants can cause piebaldism.
0 disease-causing and 12 uncertain variants in KIT are linked to Malignant tumor of testis.
Known disease-causing variants in Malignant tumor of testis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| STK11 S240W | 240 | Protein kinase | Disease-causing (★★) |
| BCL10 T163M | 163 | Disease-causing |
Same protein, different disease
- Peutz-Jeghers syndrome is also caused by STK11 variants; they fall mostly in different places as the Malignant tumor of testis variants (24 disease-causing).
- Melanoma, cutaneous malignant, susceptibility to, 8 is also caused by STK11 variants; they fall mostly in different places as the Malignant tumor of testis variants (4 disease-causing).
Diseases related to Malignant tumor of testis
- Germ cell tumor of testis, also linked to KIT and STK11
- Gastrointestinal stromal tumor, also linked to KIT
- Ovarian cancer, also linked to KIT
- Acute myeloid leukemia, also linked to KIT
- Peutz-Jeghers syndrome, also linked to STK11
- Colorectal cancer, also linked to KIT
- Non-small cell lung carcinoma, also linked to STK11
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to STK11
- Melanoma, cutaneous malignant, susceptibility to, 8, also linked to STK11
- Lung adenocarcinoma, also linked to STK11
- Piebaldism, also linked to KIT
- Hepatocellular carcinoma, also linked to KIT
Frequently asked questions
Which genes are linked to Malignant tumor of testis?
In CATVariant, Malignant tumor of testis is linked to 3 analyzed proteins: STK11 (Serine/threonine-protein kinase STK11), BCL10 (B-cell lymphoma/leukemia 10) and KIT (Mast/stem cell growth factor receptor Kit).
How many genetic variants are linked to Malignant tumor of testis?
19 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 17 are of uncertain significance or have conflicting reports.
Which uncertain variants in Malignant tumor of testis 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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