Major salivary gland cancer
diseaseOn this page
Also known as cancer of major salivary glandmalignant major salivary gland neoplasmmalignant major salivary gland tumormalignant major salivary gland tumourmalignant neoplasm of major salivary glandmalignant neoplasm of the major salivary glandmalignant tumor of major salivary glandmalignant tumor of the major salivary glandmalignant tumour of major salivary glandmalignant tumour of the major salivary gland
Summary
Major salivary gland cancer (MONDO:0044743) is a cancer with 7 GWAS associations across 4 studies and 11 clinical trials. Top therapeutic interventions include dasatinib anhydrous, trastuzumab deruxtecan, and cisplatin. A subtype of salivary gland cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- GWAS associations: 7
- Clinical trials: 11
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | major salivary gland cancer |
| Mondo ID | MONDO:0044743 |
| NCIT | C4762 |
| SNOMED CT | 363378008 |
| UMLS | C0496763 |
| MedGen | 96919 |
| GARD | 0027972 |
| Anatomy (UBERON) | UBERON:0001829 |
| Is cancer (heuristic) | yes |
Also known as: cancer of major salivary gland · malignant major salivary gland neoplasm · malignant major salivary gland tumor · malignant major salivary gland tumour · malignant neoplasm of major salivary gland · malignant neoplasm of the major salivary gland · malignant tumor of major salivary gland · malignant tumor of the major salivary gland · malignant tumour of major salivary gland · malignant tumour of the major salivary gland
Data availability: 7 GWAS associations (4 studies).
Disease family
This is a subtype of salivary gland cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › digestive system cancer › oral cavity cancer › salivary gland cancer › major salivary gland cancer
Related subtypes (2): salivary gland carcinoma, malignant tumor of minor salivary gland
Subtypes (3): sublingual gland cancer, parotid gland cancer, major salivary gland carcinoma
Genetics & variants
GWAS landscape
7 GWAS associations across 4 studies. Top hits map to 5 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs190445492 | 1e-12 | TET2-AS1 | G | 2.78 |
| rs112736544 | 1e-12 | RAB40C | G | 3.13 |
| rs188788102 | 4e-12 | SOX1-OT - LINC01070 | C | 3.74 |
| rs529003548 | 1e-11 | PPFIA2-AS2, PPFIA2 | C | 3.18 |
| rs527633281 | 3e-11 | NPM1P10 - HACE1 | T | 3.36 |
| rs587678021 | 3e-11 | SLC2A6 - MYMK | C | 3.04 |
| rs575627503 | 4e-11 | PALS2 | C | 2.33 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477168 | Verma A | 2024 | 864 | 450,063 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479775 | Verma A | 2024 | 266 | 121,540 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481477 | Verma A | 2024 | 266 | 121,540 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435570 | Zhou W | 2018 | 104 | 406,821 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 7 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 7 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 7 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs190445492 | 4 | 105352194 | G>T | 0.001 | intron_variant | TET2-AS1 | 1e-12 | Tier 4: intronic/intergenic |
| rs112736544 | 16 | 606629 | G>A,T | 0 | intron_variant | RAB40C | 1e-12 | Tier 4: intronic/intergenic |
| rs188788102 | 13 | 112182588 | C>T | 0 | intron_variant | SOX1-OT - LINC01070 | 4e-12 | Tier 4: intronic/intergenic |
| rs529003548 | 12 | 81474281 | C>G | 0.001 | intron_variant | PPFIA2-AS2, PPFIA2 | 1e-11 | Tier 4: intronic/intergenic |
| rs527633281 | 6 | 104428096 | T>C | 0 | intron_variant | NPM1P10 - HACE1 | 3e-11 | Tier 4: intronic/intergenic |
| rs587678021 | 9 | 133495969 | C>A,T | 0.001 | intron_variant | SLC2A6 - MYMK | 3e-11 | Tier 4: intronic/intergenic |
| rs575627503 | 7 | 24641675 | C>A | 0.002 | intron_variant | PALS2 | 4e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 11.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 5 |
| PHASE1 | 3 |
| PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00588770 | PHASE3 | ACTIVE_NOT_RECRUITING | Chemotherapy With or Without Bevacizumab in Treating Patients With Recurrent or Metastatic Head and Neck Squamous Cell Carcinoma |
| NCT04895735 | PHASE2 | ACTIVE_NOT_RECRUITING | MC200708 Pemetrexed and Pembrolizumab for the Treatment of Recurrent and/or Metastatic Salivary Gland Cancer |
| NCT05408845 | PHASE2 | RECRUITING | Testing the Use of Ado-Trastuzumab Emtansine Compared to the Usual Treatment (Chemotherapy With Docetaxel Plus Trastuzumab) or Trastuzumab Deruxtecan for Recurrent, Metastatic, or Unresectable HER2-Expressing Salivary Gland Cancers |
| NCT00859937 | PHASE2 | COMPLETED | Dasatinib in Treating Patients With Recurrent or Metastatic Malignant Salivary Gland Tumors |
| NCT01175980 | PHASE2 | COMPLETED | Vorinostat in Treating Patients With Locally Advanced, Recurrent, or Metastatic Adenoid Cystic Carcinoma |
| NCT01604772 | PHASE2 | COMPLETED | Akt Inhibitor MK2206 in Treating Patients With Progressive, Recurrent, or Metastatic Adenoid Cyst Carcinoma |
| NCT03749460 | PHASE1/PHASE2 | COMPLETED | Nivolumab and Ipilimumab and Stereotactic Body Radiation Therapy in Treating Patients With Salivary Gland Cancers |
| NCT04576091 | PHASE1 | ACTIVE_NOT_RECRUITING | Testing the Addition of an Anti-cancer Drug, BAY 1895344, With Radiation Therapy to the Usual Pembrolizumab Treatment for Recurrent Head and Neck Cancer |
| NCT04704661 | PHASE1 | ACTIVE_NOT_RECRUITING | Testing the Combination of Two Anti-cancer Drugs, DS-8201a and AZD6738, for The Treatment of Advanced Solid Tumors Expressing the HER2 Protein or Gene, The DASH Trial |
| NCT01254617 | PHASE1 | COMPLETED | Lenalidomide and Cetuximab in Treating Patients With Advanced Colorectal Cancer or Head and Neck Cancer |
| NCT01365169 | Not specified | RECRUITING | Association Between Health Care Provider (HCP)-Assessed ECOG Performance Status (PS) and Overall Survival, and Objectively Measure of Physical Activity (PA) Levels in Advance-cancer Patients |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| DASATINIB ANHYDROUS | 4 | 2 |
| TRASTUZUMAB DERUXTECAN | 4 | 2 |
| CISPLATIN | 4 | 1 |
| TRASTUZUMAB EMTANSINE | 4 | 1 |
| VORINOSTAT | 4 | 1 |
| CERALASERTIB | 3 | 1 |
| ELIMUSERTIB | 1 | 1 |
| CHEMBL4583196 | 0 | 1 |