Klinische FragestellungKrebs-Prädisposition des Erwachsenen für solide Tumore
Zusammenfassung
Ein kuratiertes panel mit >100 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Prädispositionen des Erwachsenen für solide Tumore; mit der Analyse von 6 Genen werden die häufigeren Prädispositionen erfasst.
226,0 kb (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ATM | 9171 | NM_000051.4 | AD, AR, Sus | |
BRCA1 | 5592 | NM_007294.4 | AD, AR, Sus | |
MEN1 | 1833 | NM_130799.2 | AD | |
PTEN | 1212 | NM_000314.8 | AD | |
RET | 3345 | NM_020975.6 | AD | |
TP53 | 1182 | NM_000546.6 | AD | |
AIP | 993 | NM_003977.4 | AD | |
APC | 8532 | NM_000038.6 | AD | |
BAP1 | 2190 | NM_004656.4 | AD | |
BARD1 | 2334 | NM_000465.4 | AD, Sus | |
BMPR1A | 1599 | NM_004329.3 | AD | |
BRAF | 2301 | NM_004333.6 | Sus | |
BRCA2 | 10257 | NM_000059.4 | AD, AR, Sus | |
BRIP1 | 3750 | NM_032043.3 | AD, Sus | |
CBL | 2721 | NM_005188.4 | AD | |
CDC73 | 1596 | NM_024529.5 | AD | |
CDH1 | 2649 | NM_004360.5 | AD | |
CDK4 | 912 | NM_000075.4 | AD | |
CDKN1B | 597 | NM_004064.5 | AD, Sus | |
CDKN2A | 471 | NM_000077.5 | AD, Sus | |
CHEK2 | 1632 | NM_007194.4 | AD | |
DICER1 | 5769 | NM_177438.3 | AD, Sus | |
EPCAM | 945 | NM_002354.3 | AD | |
ERCC2 | 2283 | NM_000400.4 | AR | |
ERCC3 | 2349 | NM_000122.2 | AR | |
ERCC4 | 2751 | NM_005236.3 | AR | |
ERCC5 | 3561 | NM_000123.4 | AR | |
EXT1 | 2241 | NM_000127.3 | AD, Sus | |
EXT2 | 2157 | NM_207122.2 | AD, Sus | |
FANCA | 4368 | NM_000135.4 | AR, Sus | |
FANCB | 2580 | NM_001018113.3 | XL, Sus | |
FANCC | 1677 | NM_000136.3 | AR, Sus | |
FANCE | 1611 | NM_021922.3 | AR, Sus | |
FANCF | 1125 | NM_022725.4 | AR | |
FANCG | 1869 | NM_004629.2 | Sus | |
FANCI | 3987 | NM_001113378.2 | AR, Sus | |
FANCL | 1128 | NM_018062.4 | AR, Sus | |
FH | 1533 | NM_000143.4 | AD, Sus | |
FLCN | 1740 | NM_144997.7 | AD, Sus | |
HRAS | 570 | NM_005343.4 | AD, Sus | |
KIT | 2931 | NM_000222.3 | AD | |
KRAS | 567 | NM_004985.5 | AD | |
LZTR1 | 2523 | NM_006767.4 | AD, AR | |
MAP2K1 | 1182 | NM_002755.4 | AD | |
MAP2K2 | 1203 | NM_030662.4 | AD | |
MAX | 483 | NM_002382.5 | AD | |
MET | 4227 | NM_001127500.3 | AD, Sus | |
MLH1 | 2271 | NM_000249.4 | AD, AR, Sus | |
MSH2 | 2805 | NM_000251.3 | AD, AR, Sus | |
MSH6 | 4083 | NM_000179.3 | AD, AR, Sus | |
MUTYH | 1650 | NM_001128425.2 | AR, Sus | |
NF1 | 8457 | NM_001042492.3 | AD | |
NF2 | 1788 | NM_000268.4 | AD | |
NRAS | 570 | NM_002524.5 | AD, Sus | |
NTHL1 | 915 | NM_002528.7 | AR | |
PALB2 | 3561 | NM_024675.4 | AD | |
PDGFRA | 3270 | NM_006206.6 | AD, Sus | |
PMS2 | 2589 | NM_000535.7 | Sus, AD | |
POLD1 | 3324 | NM_002691.4 | AD | |
POLE | 6861 | NM_006231.4 | AD | |
POLH | 2142 | NM_006502.3 | AR | |
PRCC | 1476 | NM_005973.5 | Gen Fusion | |
PTCH1 | 4344 | NM_000264.5 | AD | |
PTPN11 | 1782 | NM_002834.5 | AD | |
RAD51C | 1131 | NM_058216.3 | AR, Sus | |
RAD51D | 987 | NM_002878.4 | AD | |
RAF1 | 1947 | NM_002880.4 | AD | |
RB1 | 2787 | NM_000321.3 | AD | |
RTEL1 | 3732 | NM_032957.5 | AD, AR | |
SDHA | 1995 | NM_004168.4 | AD, AR | |
SDHAF2 | 501 | NM_017841.4 | AD | |
SDHB | 843 | NM_003000.3 | AD | |
SDHC | 510 | NM_003001.5 | AD | |
SDHD | 480 | NM_003002.4 | AD, AR, Sus | |
SHOC2 | 1749 | NM_007373.4 | AD | |
SMAD4 | 1659 | NM_005359.6 | AD | |
SMARCA4 | 5040 | NM_001128849.3 | AD, AR | |
SMARCB1 | 1158 | NM_003073.5 | AD | |
SOS1 | 4002 | NM_005633.4 | AD | |
STK11 | 1302 | NM_000455.5 | AD | |
SUFU | 1455 | NM_016169.4 | AD | |
TERT | 3399 | NM_198253.3 | AR, AD | |
TMEM127 | 717 | NM_017849.4 | AD | |
TSC1 | 3495 | NM_000368.5 | AD | |
TSC2 | 5424 | NM_000548.5 | AD | |
VHL | 642 | NM_000551.4 | AD | |
WRAP53 | 1647 | NM_001143990.2 | AR | |
WT1 | 1569 | NM_024426.6 | AD | |
XPA | 822 | NM_000380.4 | AR | |
XPC | 2823 | NM_004628.5 | AR |
Infos zur Erkrankung
5-10% der Krebserkrankungen sind auf erbliche Ursachen zurückzuführen. Die Inzidenz von erblich bedingten Malignomen bei Krebspatienten kann bis zu 17,5% betragen. Die Identifizierung von Keimbahnvarianten hat Auswirkungen auf Patienten und ihre Familien. Keimbahnvarianten treten in den Keimzellen auf. Obwohl somatische Varianten zunächst nur in einer einzigen Zelle vorkommen und ausschließlich an die Tochterzellen weitergegeben werden, gibt es Keimbahnvarianten in allen somatischen Zellen; diese können die Krebsanfälligkeit beeinflussen, indem sie mehrere zelluläre Prozesse beeinflussen (z.B. Wachstumsverhalten von Krebszell-Klonen, Erwerbsraten weiterer somatischer Varianten, Fehl-Steuerung des physiologischen Metabolismus). Die Entdeckung und das Verständnis von Keimbahnvarianten sind von großer klinischer Bedeutung für den Patienten, bei dem erblicher Krebs diagnostiziert ist; der Nachweis von vererbten Varianten hat oft therapeutischen und prognostischen Wert für den Patienten und seine Verwandten.
- 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)
- AD
- AR
- Gen Fusion
- Sus
- XL
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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