IllnessEsophageal squamous cell cancer [susceptibility]

Summary

Short information

A curated panel containing 1 guideline-curated gene and altogether 6 genes for the comprehensive analysis of the genetic susceptibility for esophageal cancer

ÖP0001

Number of genes

5 Accredited laboratory test

Examined sequence length

11,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DCC	4344	120470	NM_005215.4	Sus
LZTS1	1791	606551	NM_021020.5	Sus
RNF6	2058	604242	NM_005977.4	SMu
TGFBR2	1704	190182	NM_003242.6	Sus
WWOX	1245	605131	NM_016373.4	Sus

Informations about the disease

Clinical Comment

A tumor arising in the cells lining the esophagus, two subtypes: esophageal squamous cell carcinoma + esophageal adenocarcinoma, the latter especially distally after long-lasting reflux

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)
Tylosis with esophageal cancer (RHBDF2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined