Deutsch
IllnessHead and neck cancer, susceptibility
Summary
Short information
Comprehensive differential diagnostic panel for Head and neck cancer (susceptibility) comprising 10 or 19 curated genes according to the clinical signs
ID
HP7485
Number of genes
18
Accredited laboratory test
Examined sequence length
22,1 kb (Core-/Core-canditate-Genes)
42,6 kb (Extended panel: incl. additional genes)
42,6 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
| Name | Exon Length (bp) | OMIM-G | Heredity |
|---|---|---|---|
| BRIP1 | 3750 | AR | |
| FANCA | 4368 | AR | |
| FANCB | 2580 | Sus | |
| FANCC | 1677 | Sus | |
| FANCE | 1611 | AR, Sus | |
| FANCF | 1125 | Sus | |
| FANCG | 1869 | Sus | |
| FANCI | 3987 | Sus | |
| FANCL | 1128 | Sus | |
| FANCM | 6147 | AR, Sus | |
| HMGA2 | 330 | Sus | |
| ING1 | 789 | SMu | |
| NFKBIA | 954 | AD | |
| PLAG1 | 1503 | Gen Fusion | |
| PRKD1 | 2739 | AD | |
| PTEN | 1212 | AD | |
| SLX4 | 5505 | AR | |
| TNFRSF10B | 1323 | AD |
Informations about the disease
Clinical Comment
Despite classical environmental risk factors like tobacco, alcohol and viral infection, not all individuals develop head and neck cancer. Therefore, identification of the genetic susceptibility remains important. Candidate SNPs reside in genes within well-known carcinogenic pathways (oncogenesis, tumour suppression, DNA repair, inflammation, oxidation, apoptosis).
Synonyms
- Alias: Squamous cell carcinoma, head and neck; susceptibility
- Adenomas, salivary gland pleomorphic, somatic (PLAG1)
- Alias: Squamous cell carcinoma, head and neck, somatic (ING)
- Alias: Squamous cell carcinoma, head and neck (TNFRSF10B)
- Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
- Allelic: Congenital heart defects and ectodermal dysplasia (PRKD1)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Ectodermal dysplasia and immunodeficiency 2 (NFKBIA)
- Allelic: Fanconi anemia, complementation group A (FANCA)
- Allelic: Fanconi anemia, complementation group B (FANCB)
- Allelic: Fanconi anemia, complementation group C (FANCC)
- Allelic: Fanconi anemia, complementation group D2 (FANCD2)
- Allelic: Fanconi anemia, complementation group E (FANCE)
- Allelic: Fanconi anemia, complementation group F (FANCF)
- Allelic: Fanconi anemia, complementation group G (FANCG)
- Allelic: Fanconi anemia, complementation group I (FANCI)
- Allelic: Fanconi anemia, complementation group J (BRIP1)
- Allelic: Fanconi anemia, complementation group L (FANCL)
- Allelic: Fanconi anemia, complementation group M (FANCM)
- Allelic: Fanconi anemia, complementation group P (SLX4)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Meningioma (PTEN)
- Allelic: Prostate cancer, somatic (PTEN)
- Allelic: Silver-Russell syndrome 4 (PLAG1)
- Allelic: Silver-Russell syndrome 5 (HMGA2)
Heredity, heredity patterns etc.
- AD
- AR
- Gen Fusion
- SMu
- Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C76.0
Bioinformatics and clinical interpretation
No text defined