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Geneticpanel diagnostics

IllnessEsophageal squamous cell cancer (susceptibility)

Summary

Short information

Ein kuratiertes panel mit 5 Genen zur umfassenden Untersuchung der genetisch bedingten Suszeptibilität für Ösophagus-Karzinom

ID
ÖP0001
Number of genes
5 Akkreditierte Untersuchung
Examined sequence length
11,2 kb (Core-/Base-Genes)
- (Extended panel)
Analysis Duration
auf Anfrage
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
DCC4344AD and/or AR
LZTS11791SMu
RNF62058SMu
TGFBR21704AD
WWOX1245AR

Informations about the disease

Clinical Comment

Tumor, der in den Epithelzellen entsteht, die die Speiseröhre auskleiden, zwei Subtypen: Ösophagus-Plattenepithelkarzinom + Ösophagus-Adenokarzinom

 

Synonyms
  • Alias: Carcinoma of esophagus
  • Alias: Esophageal carcinoma, somatic
  • Alias: Esophageal squamous cell carcinoma, somatic
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Colorectal cancer, somatic (DCC)
  • Allelic: Epileptic encephalopathy, early infantile, 28 (WWOX)
  • Allelic: Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
  • Allelic: Loeys-Dietz syndrome 2 (TGFBR2)
  • Allelic: Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
  • Allelic: Spinocerebellar ataxia, AR 12 (WWOX)
  • Esophageal cancer, somatic (TGFBR2)
  • Esophageal carcinoma, somatic (DCC)
  • Esophageal carcinoma, somatic (RNF6)
  • Esophageal squamous cell carcinoma, somatic (LZTS1)
  • Esophageal squamous cell carcinoma, somatic (WWOX)
Heredity, heredity patterns etc.
  • AD
  • AD and/or AR
  • AR
  • SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C15.-

Bioinformatics and clinical interpretation

No text defined