Deutsch
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)
27,8 kb (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 |
|---|---|---|---|---|
| CDH1 | 2649 | NM_004360.5 | AD | |
| MLH1 | 2271 | NM_000249.4 | AD | |
| MSH2 | 2805 | NM_000251.3 | AD, Sus | |
| MSH6 | 4083 | NM_000179.3 | AD, Sus | |
| PMS2 | 2589 | NM_000535.7 | AR, Sus, AD | |
| RHBDF2 | 2484 | NM_001005498.4 | AD | |
| STK11 | 1302 | NM_000455.5 | AD | |
| KIT | 2931 | NM_000222.3 | AD | |
| PDGFRA | 3270 | NM_006206.6 | AD, Sus | |
| SDHA | 1995 | NM_004168.4 | AD, AR | |
| SDHB | 843 | NM_003000.3 | AD | |
| SDHC | 510 | NM_003001.5 | AD |
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