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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCancer susceptibility upper gastrointestinal tract

Summary

Short information

Comprehensive differential diagnostic panel for Cancer susceptibility in the upper gastrointestinal tract comprising 8 guideline-curated and altogether 13 curated genes

ID
KP9933
Number of genes
12 Accredited laboratory test
Examined sequence length
18,2 kb (Core-/Core-canditate-Genes)
27,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CDH12649NM_004360.5AD
MLH12271NM_000249.4AD
MSH22805NM_000251.3AD, Sus
MSH64083NM_000179.3AD, Sus
PMS22589NM_000535.7AR, Sus, AD
RHBDF22484NM_001005498.4AD
STK111302NM_000455.5AD
KIT2931NM_000222.3AD
PDGFRA3270NM_006206.6AD, Sus
SDHA1995NM_004168.4AD, AR
SDHB843NM_003000.3AD
SDHC510NM_003001.5AD

Informations about the disease

Clinical Comment

Genes with strong clinical evidence conferring susceptibility of clinically-relevant penetrance to the respective tumours of the upper gastrointestinal tract as well as to hepatopancreatobiliary cancers.

 

Synonyms
  • Allelic: Blepharocheilodontic syndrome 1 (CDH1)
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Germ cell tumors, somatic (KIT)
  • Allelic: Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)
  • Allelic: Leigh syndrome (SDHA)
  • Allelic: Leukemia, acute myeloid, somatic (KIT)
  • Allelic: Macular dystrophy, patterned, 2 (CTNNA1)
  • Allelic: Mastocytosis, cutaneous (KIT)
  • Allelic: Mastocytosis, systemic, somatic (KIT)
  • Allelic: Mitochondrial respiratory chain complex II deficiency (SDHA)
  • Allelic: Piebaldism (KIT)
  • Allelic: Prostate cancer, susceptibility to (CDH1)
  • Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
  • Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
  • Diffuse gastric + lobular breast cancer syndrome with/-out cleft lip +/- palate (CDH1)
  • Gastrointestinal stromal tumor (SDHB, SDHC)
  • Gastrointestinal stromal tumor, familial (KIT)
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial (PDGFRA)
  • Hereditäres diffuses Magenkarzinom [ONKOPED IA-Leitlinie] (CTNNA1)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Muir-Torre syndrome (MLH1, MSH2)
  • Paraganglioma and gastric stromal sarcoma (SDHB, SDHC)
  • Paragangliomas 3 (SDHC)
  • Paragangliomas 4 (SDHB)
  • Paragangliomas 5 (SDHA)
  • Peutz-Jeghers syndrome (STK11)
  • Pheochromocytoma (SDHB)
  • Tylosis with esophageal cancer (RHBDF2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined