ErkrankungTumor-Schnittmengen panel
Zusammenfassung
Kurzinformation
TP0815_KI
ID
TP0815
Anzahl Gene
29
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
87,1 kb (Erweitertes Panel)
87,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
TP0815_DH
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
APC | 8532 | AD und/oder Sus | |
ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
BAP1 | 2190 | AD und/oder SMu und/oder Sus | |
BMPR1A | 1599 | AD und/oder Sus | |
BRCA1 | 5592 | AD und/oder AR und/oder SMu und/oder Sus | |
BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
BRIP1 | 3750 | AD und/oder Sus | |
CDH1 | 2649 | AD und/oder SMu und/oder Sus | |
CDK4 | 912 | AD und/oder SMu | |
CDKN2A | 471 | AD und/oder SMu und/oder Sus | |
CHEK2 | 1632 | AD und/oder SMu | |
EPCAM | 945 | AR und/oder SMu und/oder Sus | |
GREM1 | 555 | AD | |
HOXB13 | 855 | Mult und/oder SMu | |
MLH1 | 2271 | AD und/oder AR und/oder Sus | |
MSH2 | 2805 | AD und/oder AR und/oder Sus | |
MSH6 | 4083 | AD und/oder AR und/oder Sus | |
MUTYH | 1650 | AR und/oder Sus | |
PALB2 | 3561 | AD und/oder Sus | |
PALLD | 3372 | Sus | |
PMS2 | 2589 | AR und/oder Sus | |
POLD1 | 3324 | AD | |
POLE | 6861 | AD und/oder AR | |
PTEN | 1212 | AD und/oder SMu und/oder Sus | |
RAD51C | 1131 | AR und/oder Sus | |
RAD51D | 987 | AD und/oder SMu | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
STK11 | 1302 | AD und/oder Sus | |
TP53 | 1182 | AD und/oder SMu und/oder Sus |
Infos zur Erkrankung
Synonyme
- Alias: Solid cancer predisposition genes
- Allelic: Adrenal adenoma, somatic (MEN1)
- Allelic: Angiofibroma, somatic (MEN1)
- Allelic: Ataxia-telangiectasia (ATM)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
- Allelic: Central hypoventilation syndrome, congenital (RET)
- Allelic: Fanconi anemia, complementation group S (BRCA1)
- Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Lipoma, somatic (MEN1)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
- Allelic: Metachondromatosis (PTPN11)
- Allelic: Multiple endocrine neoplasia 1 (MEN1)
- Allelic: Parathyroid adenoma, somatic (MEN1)
- Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
- Adrenocortical carcinoma, pediatric (TP53)
- Basal cell carcinoma 7 (TP53)
- Breast cancer, somatic (TP53)
- Breast cancer, susceptibility to (ATM)
- Breast-ovarian cancer, familial, 1 (BRCA1)
- Carcinoid tumor of lung (MEN1)
- Cardiofaciocutaneous syndrome (BRAF)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Cardiofaciocutaneous syndrome 4 (MAP2K2)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
- Choroid plexus papilloma (TP53)
- Colorectal cancer (TP53)
- Cowden syndrome 1 (PTEN)
- DNA damage repair defect [panelapp] (ZNF668)
- Dyskeratosis congenita, AD 3 (TINF2)
- Dyskeratosis congenita, AD 6 (ACD)
- Dyskeratosis congenita, AR 6 (PARN)
- Dyskeratosis congenita, AR 7 (ACD)
- Dyskeratosis congenita, XL (DKC1)
- Fanconi anemia, complementation group D2 (FANCD2)
- Fanconi anemia, complementation group P (SLX4)
- Glioma susceptibility 1 (TP53)
- Glioma susceptibility 2 (PTEN)
- Hepatocellular carcinoma, somatic (TP53)
- IUGR, short stature, failure to thrive, body asymmetry [panelapp] (NLRP5)
- LEOPARD syndrome 1 (PTPN11)
- LEOPARD syndrome 2 (RAF1)
- LEOPARD syndrome 3 (BRAF)
- Li-Fraumeni syndrome (TP53)
- Lymphoma, B-cell non-Hodgkin, somatic (ATM)
- Lymphoma, mantle cell, somatic (ATM)
- Maternal effect gene causing phenotypes that include IUGR [panelapp] (NLRP2)
- Medullary thyroid carcinoma (RET)
- Meningioma (PTEN)
- Microcephaly, growth deficiency, global dev. delay, brain malformation [panelapp] (ZNF668)
- Multilocus imprinting disturbances [panelapp] (NLRP5)
- Multiple endocrine neoplasia IIA, IIB (RET)
- Nasopharyngeal carcinoma, somatic (TP53)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 10 (LZTR1)
- Noonan syndrome 2 (LZTR1)
- Noonan syndrome 5 (RAF1)
- Noonan syndrome 7 (BRAF)
- Noonan syndrome 8 (RIT1)
- Noonan syndrome 9 (SOS2)
- Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
- Osteosarcoma (TP53)
- Pancreatic cancer, somatic (TP53)
- Pancreatic cancer, susceptibility to, 4 (BRCA1)
- Pheochromocytoma (RET)
- Prostate cancer, somatic (PTEN)
- Renal cell carcinoma, papillary (PRCC)
- Revesz syndrome (TINF2)
- Schwannomatosis-2, susceptibility to (LZTR1)
- T-cell prolymphocytic leukemia, somatic (ATM)
- Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR und/oder SMu und/oder Sus
- AR und/oder Sus
- Mult und/oder SMu
- Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C76.-
Bioinformatik und klinische Interpretation
Kein Text hinterlegt