Malignant tumor of esophagus: genes and variants

Genes linked to Malignant tumor of esophagus

• WWOX: WW domain-containing oxidoreductase

  It participates in cellular stress, metabolism, and transcriptional signaling and spans a common fragile site frequently altered in cancer. Biallelic loss-of-function variants cause severe developmental and epileptic encephalopathy or spinocerebellar ataxia, depending on residual function.

  2 disease-causing and 8 uncertain variants in WWOX are linked to Malignant tumor of esophagus.

• TGFBR2: TGF-beta receptor type-2

  It binds TGF-beta ligands and activates TGFBR1 to initiate canonical and noncanonical signaling. Germline pathogenic variants cause Loeys-Dietz syndrome type 2, while somatic loss can remove growth-suppressive TGF-beta responses in cancer.

  1 disease-causing and 28 uncertain variants in TGFBR2 are linked to Malignant tumor of esophagus.

Weakly linked (only a few uncertain records): TP53.

Known disease-causing variants in Malignant tumor of esophagus

Same protein, different disease

• Autosomal recessive spinocerebellar ataxia 12 is also caused by WWOX variants; they fall mostly in different places as the Malignant tumor of esophagus variants (5 disease-causing).
• Familial thoracic aortic aneurysm and aortic dissection is also caused by TGFBR2 variants; they fall mostly in different places as the Malignant tumor of esophagus variants (78 disease-causing).
• Loeys-Dietz syndrome is also caused by TGFBR2 variants; they fall mostly in different places as the Malignant tumor of esophagus variants (49 disease-causing).
• Ehlers-Danlos syndrome is also caused by TGFBR2 variants; they fall mostly in different places as the Malignant tumor of esophagus variants (4 disease-causing).
• Marfan syndrome is also caused by TGFBR2 variants; they fall mostly in different places as the Malignant tumor of esophagus variants (3 disease-causing).

Diseases related to Malignant tumor of esophagus

• Familial thoracic aortic aneurysm and aortic dissection, also linked to TGFBR2
• Marfan syndrome, also linked to TGFBR2
• Ehlers-Danlos syndrome, also linked to TGFBR2
• Loeys-Dietz syndrome, also linked to TGFBR2
• Colorectal cancer, hereditary nonpolyposis, type 6, also linked to TGFBR2
• Autosomal recessive spinocerebellar ataxia 12, also linked to WWOX
• Parkinson disease, also linked to TGFBR2
• Undetermined early-onset epileptic encephalopathy, also linked to WWOX

Frequently asked questions

Which genes are linked to Malignant tumor of esophagus?

In CATVariant, Malignant tumor of esophagus is linked to 2 analyzed proteins: WWOX (WW domain-containing oxidoreductase) and TGFBR2 (TGF-beta receptor type-2).

How many genetic variants are linked to Malignant tumor of esophagus?

45 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 37 are of uncertain significance or have conflicting reports.

Which uncertain variants in Malignant tumor of esophagus 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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