Deutsch
IllnessTumor predisposition syndrome, BAP1-dependent
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion Tumor predisposition syndrome, BAP1-dependent
ID
TS1001
Number of genes
1
Accredited laboratory test
Examined sequence length
2,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (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 |
|---|---|---|---|
| BAP1 | 2190 | AD |
Informations about the disease
Clinical Comment
Most commonly observed cancers: uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer + meningioma; common cutaneous manifestations include malignant melanoma, basal cell carcinoma + benign melanocytic BAP1-mutated atypical intradermal tumors
Synonyms
- Alias: BAP1-related tumor predisposition syndrome (BAP1)
- Alias: Tumor susceptibility linked to germline BAP1 mutations
- FAMMM; Nierenkarzinom (BAP1)
- Familial Atypical Mole-Malignant Melanoma syndrome, FAMMM (BAP1)
- Tumor predisposition syndrome (BAP1)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
C64
Bioinformatics and clinical interpretation
No text defined