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Klinische FragestellungKrebs-Vorsorge, genetisch [privatärztliche Leistung]

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit >130 Genen zur umfassenden Untersuchung von den allermeisten bekannten genetisch bedingten Tumorentitäten zur Vorsorge

ID
KP6555
Anzahl Gene
99 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
50,1 kb (Core-/Core-canditate-Gene)
254,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
APC8532NM_000038.6AD
BRCA210257NM_000059.4AD, AR, Sus
CDKN2A471NM_000077.5AD
EPCAM945NM_002354.3AD
MLH12271NM_000249.4AD
MSH22805NM_000251.3AD
MSH64083NM_000179.3AD
MUTYH1650NM_001128425.2AR
NF18457NM_001042492.3AD
PMS22589NM_000535.7AD, Sus
PTEN1212NM_000314.8AD, AR
RB12787NM_000321.3AD
RET3345NM_020975.6AD
VHL642NM_000551.4AD
AIP993NM_003977.4AD
AKT11443NM_005163.2AD
ALK4863NM_004304.5AD
ATM9171NM_000051.4AD, AR
ATR7935NM_001184.4AD
BAP12190NM_004656.4AD
BARD12334NM_000465.4AR
BLM4254NM_000057.4AR
BMPR1A1599NM_004329.3AD
BRIP13750NM_032043.3AD
CDC731596NM_024529.5AD
CDH12649NM_004360.5AD
CDK4912NM_000075.4AD
CDKN1B597NM_004064.5AD
CHEK21632NM_007194.4AD
CYLD2871NM_015247.3AD
DDB21284NM_000107.3AR
DICER15769NM_177438.3AD
DIS3L22658NM_152383.5AR
ERCC1972NM_202001.3AR
ERCC22283NM_000400.4AR
ERCC32349NM_000122.2AR
ERCC42751NM_005236.3AR
ERCC53561NM_000123.4AR
EXT12241NM_000127.3AD
EXT22157NM_207122.2AD
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XL
FANCC1677NM_000136.3AR
FANCE1611NM_021922.3AR
FANCF1125NM_022725.4AR
FANCG1869NM_004629.2AR
FANCI3987NM_001113378.2AR
FANCL1128NM_018062.4AR
FANCM6147NM_020937.4AR
FH1533NM_000143.4AD
FLCN1740NM_144997.7AD
GREM1555NM_013372.7AD
HRAS570NM_005343.4AD
KIT2931NM_000222.3AD
LIG42736NM_002312.3AR
LZTR12523NM_006767.4AD, AR
MAX483NM_002382.5AD
MEN11833NM_130799.2AD
MET4227NM_001127500.3AD
MITF1260NM_000248.4AD
MSH33414NM_002439.5AR
NBN2265NM_002485.5AR
NF21788NM_000268.4AD
NTHL1915NM_002528.7AR
PALB23561NM_024675.4AD
POLD13324NM_002691.4AD
POLE6861NM_006231.4AD
POLH2142NM_006502.3AR
POT11905NM_015450.3Sus
PRKAR1A1146NM_002734.5AD
PRSS1744NM_002769.5AD
PTCH14344NM_000264.5AD
RAD511023NM_001164269.2AD
RAD51C1131NM_058216.3AR, AD
RAD51D987NM_002878.4AD
RECQL43628NM_004260.4AR
SDHA1995NM_004168.4AD
SDHAF2501NM_017841.4AD
SDHB843NM_003000.3AD
SDHC510NM_003001.5AD
SDHD480NM_003002.4AD, AR
SEC23B2304NM_006363.6AD
SLX45505NM_032444.4AR
SMAD41659NM_005359.6AD
SMARCA45040NM_001128849.3AD, AR
SMARCB11158NM_003073.5AD
SMARCE11236NM_003079.5AD
STK111302NM_000455.5AD
SUFU1455NM_016169.4AD, AR
TMEM127717NM_017849.4AD
TP531182NM_000546.6AD
TSC13495NM_000368.5AD
TSC25424NM_000548.5AD
UBE2T594NM_014176.4AR
WRN4299NM_000553.6AR
WT11569NM_024426.6AD
XPA822NM_000380.4AR
XPC2823NM_004628.5AR
XRCC2843NM_005431.2AR

Infos zur Erkrankung

Klinischer Kommentar

Bis zu 10% aller Krebserkrankungen sind erblich bedingt, d.h. mindestens eine Mutation wurde von mindestens einem der beiden Elternteile vererbt. Bei einem erblichen Krebssyndrom handelt es sich um eine genetische Veranlagung für bestimmte Krebsarten, die oft schon in jungen Jahren auftreten und durch vererbte pathogene Varianten in einem oder mehreren Genen verursacht wird. Obwohl eine Mutation als jede Veränderung in der DNA-Sequenz definiert ist, die vom Normalzustand abweicht, handelt es sich bei einer pathogenen Variante oder schädlichen Mutation um eine genetische Veränderung, die die Veranlagung einer Person für eine bestimmte Krankheit oder Störung erhöht. Häufig führen diese prädisponierenden pathogenen Varianten auch zu Krebs, der mehrere Organe desselben Individuums oder einer Familie betrifft. Genetische Tests von bösartigem Tumorgewebe (somatisch) werden in der Onkologie immer häufiger eingesetzt, um mögliche zielgerichtete Therapien für die Krebsbehandlung zu ermitteln. Die meisten erblichen Krebssyndrome weisen einen autosomal-dominanten Erbgang auf. Krebserkrankungen, mit denen Gynäkologen häufig konfrontiert werden, wie Brust- und Eierstockkrebs, Endometrium- und Dickdarmkrebs, können Teil eines bestimmten erblichen Krebssyndroms sein. Zu den häufigsten erblichen Krebserkrankungen unter den >50 Syndromen gehören das erbliche Brust- und Eierstockkrebs-Syndrom, Lynch-, Li-Fraumeni-, Cowden-Syndrom und Peutz-Jeghers-Syndrom, erblicher diffuser Magenkrebs, das von-Hippel-Lindau-Syndrom und bei Kindern Retinoblastom und Wilms-Tumor. Dieses erbliche Krebsrisikopanel umfasst mehr als 100 Gene zur Identifizierung von Personen (und Familien), die ein erhöhtes Risiko für die Entwicklung bestimmter Krebsarten haben. Die diagnostische Ausbeute ist insgesamt noch unbekannt. Ein negatives molekulargenetisches Ergebnis schließt die Veranlagung zur Krebserkrankungen nicht aus.

Referenz: doi 10.1097/01.JAA.0000721648.46099.2c

 

Synonyme
  • Genetic test for cancer prevention
  • Tumor panel
  • Allelic: Blepharocheilodontic syndrome 1 (CDH1)
  • Allelic: COMMAD syndrome (MITF)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Allelic: FILS [Facial dysmorphism, Immunodeficiency, Livedo, Short stature] syndrome (POLE)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
  • Allelic: Fumarase deficiency (FH)
  • Allelic: Hirschsprung disease, protection against (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Hyperparathyroidism, familial primary (CDC73)
  • Allelic: IMAGE-I syndrome (POLE)
  • Allelic: Kury-Isidor syndrome (BAP1)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
  • Allelic: Mirror movements 2 (RAD51)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
  • Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
  • Allelic: Piebaldism (KIT)
  • Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Allelic: Pneumothorax, primary spontaneous (FLCN)
  • Allelic: Seizures, scoliosis + macrocephaly syndrome (EXT2)
  • Allelic: Tietz albinism-deafness syndrome (MITF)
  • Allelic: Waardenburg syndrome, type 2A (MITF)
  • Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
  • Acrodysostosis 1, with/-out hormone resistance (PRKAR1A) 3
  • Adenomas, multiple colorectal (MUTYH)
  • Adenomatous polyposis coli (APC)
  • Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Coffin-Siris syndrome 3 (SMARCB1)
  • Allelic: Coffin-Siris syndrome 4 (SMARCA4)
  • Allelic: Coffin-Siris syndrome 5 (SMARCE1)
  • Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Allelic: Erythrocytosis, familial, 2 (VHL)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Nephrotic syndrome, type 4 (WT1)
  • Allelic: Premature ovarian failure 17 (XRCC2)
  • Allelic: Spermatogenic failure 50 (XRCC2)
  • Aplastic anemia (NBN)
  • Ataxia-telangiectasia (ATM)
  • Baller-Gerold syndrome (RECQL4)
  • Basal cell carcinoma 7 (TP53)
  • Basal cell nevus syndrome (PTCH1)
  • Basal cell nevus syndrome (SUFU)
  • Birt-Hogg-Dube syndrome (FLCN)
  • Bloom syndrome (BLM)
  • Brain tumor-polyposis syndrome 2 (APC)
  • Breast cancer, early-onset, susceptibility to (BRIP1)
  • Breast cancer, male, susceptibility to (BRCA2)
  • Breast cancer, susceptibility to (PALB2)
  • Breast cancer, susceptibility to (ATM)
  • Breast cancer, susceptibility to (CHEK2)
  • Breast cancer, susceptibility to (RAD51)
  • Breast-ovarian cancer, familial, 1 (BRCA1)
  • Breast-ovarian cancer, familial, 2 (BRCA2)
  • Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
  • Breast-ovarian cancer, familial, susceptibility to, 4 (RAD51D)
  • Brooke-Spiegler syndrome (CYLD)
  • Carcinoid tumor of lung (MEN1)
  • Carney complex, type 1 (PRKAR1A)
  • Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Chondrosarcoma (EXT1)
  • Choroid plexus papilloma (TP53)
  • 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)
  • Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
  • Colorectal cancer, susceptibility to (CHEK2)
  • Colorectal cancer, susceptibility to, 10 (POLD1)
  • Colorectal cancer, susceptibility to, 12 (POLE)
  • Costello syndrome (HRAS)
  • Cowden syndrome 1 (PTEN)
  • Cowden syndrome 6 (AKT1)
  • Cowden syndrome 7 (SEC23B)
  • Cylindromatosis, familial (CYLD)
  • Denys-Drash syndrome (WT1)
  • Diffuse gastric + lobular breast cancer syndrome with/-out cleft lip +/- palate (CDH1)
  • Endometrial cancer, familial (MSH6)
  • Exostoses, multiple, type 1 (EXT1)
  • Exostoses, multiple, type 2 (EXT2)
  • Familial adenomatous polyposis 3 (NTHL1)
  • Familial adenomatous polyposis 4 (MSH3)
  • Fanconi anemia, complementation group A-M (FANCA-FANCM)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group O (RAD51C)
  • Fanconi anemia, complementation group P (SLX4)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fanconi anemia, complementation group R (RAD51)
  • Fanconi anemia, complementation group S (BRCA1)
  • Fanconi anemia, complementation group T (UBE2T)
  • Fanconi anemia, complementation group U (XRCC2)
  • Frasier syndrome (WT1)
  • Gardner syndrome (APC)
  • Gastrointestinal stromal tumor (SDHB)
  • Gastrointestinal stromal tumor (SDHC)
  • Gastrointestinal stromal tumor, familial (KIT)
  • Glioblastoma 3 (BRCA2)
  • Glioma susceptibility 1 (TP53)
  • Glioma susceptibility 2 (PTEN)
  • Glioma susceptibility 9 (POT1)
  • Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Hereditary mixed polyposis syndrome [panelapp] (GREM1)
  • Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Joubert syndrome 32 (SUFU)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • LIG4 syndrome (LIG4)
  • Leiomyomatosis and renal cell cancer (FH)
  • Leukemia, acute lymphoblastic (NBN)
  • Leukemia, juvenile myelomonocytic (NF1)
  • Lhermitte-Duclos disease (PTEN)
  • Li-Fraumeni syndrome 2 (CHEK2)
  • Lymphangioleiomyomatosis (TSC1)
  • Mastocytosis, cutaneous (KIT)
  • Meacham syndrome (WT1)
  • Medullary thyroid carcinoma (RET)
  • Medulloblastoma (BRCA2)
  • Medulloblastoma, desmoplastic (SUFU)
  • Melanoma + neural system tumor syndrome (CDKN2A)
  • Melanoma, cutaneous malignant, 2 (CDKN2A)
  • Melanoma, cutaneous malignant, 3 (CDK4)
  • Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
  • Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
  • Melanoma-pancreatic cancer syndrome (CDKN2A)
  • Meningioma (PTEN)
  • Meningioma, familial, susceptibility to (SMARCE1)
  • Meningioma, familial, susceptibility to (SUFU)
  • Mismatch repair cancer syndrome 1 (MLH1)
  • Mismatch repair cancer syndrome 2 (MSH2)
  • Mismatch repair cancer syndrome 3 (MSH6)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Muir-Torre syndrome (MLH1)
  • Muir-Torre syndrome (MSH2)
  • Multiple endocrine neoplasia (MEN1)
  • Multiple endocrine neoplasia IIA (RET)
  • Multiple endocrine neoplasia IIB (RET)
  • Multiple endocrine neoplasia, type IV (CDKN1B)
  • Multiple myeloma, resistance to (LIG4)
  • Myxoma, intracardiac (PRKAR1A)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis, type 2 (NF2)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Nijmegen breakage syndrome (NBN)
  • Noonan syndrome 2, 10 (LZTR1)
  • Osteofibrous dysplasia, susceptibility to (MET)
  • Osteosarcoma (TP53)
  • Pancreatic cancer 2 (BRCA2)
  • Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Pancreatitis, hereditary (PRSS1)
  • Paraganglioma + gastric stromal sarcoma (SDHB)
  • Paraganglioma + gastric stromal sarcoma (SDHC)
  • Paraganglioma and gastric stromal sarcoma (SDHD)
  • Paragangliomas 1, with/-out deafness (SDHD)
  • Paragangliomas 2 (SDHAF2)
  • Paragangliomas 3 (SDHC)
  • Paragangliomas 4 (SDHB)
  • Paragangliomas 5 (SDHA)
  • Parathyroid adenoma with cystic changes (CDC73)
  • Parathyroid carcinoma (CDC73)
  • Peutz-Jeghers syndrome (STK11)
  • Pheochromocytoma (RET)
  • Pheochromocytoma (SDHB)
  • Pheochromocytoma (SDHD)
  • Pheochromocytoma (VHL)
  • Pheochromocytoma, susceptibility to (MAX)
  • Pheochromocytoma, susceptibility to (TMEM127)
  • Pituitary adenoma 1, multiple types (AIP)
  • Pituitary adenoma predisposition (AIP)
  • Pleuropulmonary blastoma (DICER1)
  • Polyposis syndrome, hereditary mixed, 2(BMPR1A)
  • Polyposis, juvenile intestinal (SMAD4)
  • Polyposis, juvenile intestinal (BMPR1A)
  • Prostate cancer (BRCA2)
  • Prostate cancer, familial, susceptibility to (CHEK2)
  • Prostate cancer, susceptibility to (CDH1)
  • RAPADILINO syndrome (RECQL4)
  • Renal cell carcinoma, papillary (PRCC)
  • Retinoblastoma (RB1)
  • Retinoblastoma, trilateral (RB1)
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Schwannomatosis-1, susceptibility to (SMARCB1)
  • Schwannomatosis-2, susceptibility to (LZTR1)
  • Trichoepithelioma, multiple familial, 1 (CYLD)
  • Trichothiodystrophy 1, photosensitive (ERCC2)
  • Trichothiodystrophy 2, photosensitive (ERC3)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Tumor predisposition syndrome (BAP1)
  • Watson syndrome (NF1)
  • Werner syndrome (WRN)
  • Wilms tumor (BRCA2)
  • Wilms tumor, type 1 (WT1)
  • XFE progeroid syndrome (ERCC4)
  • Xeroderma pigmentosum, group A (XPA)
  • Xeroderma pigmentosum, group B (ERC3)
  • Xeroderma pigmentosum, group C (XPC)
  • Xeroderma pigmentosum, group D (ERCC2)
  • Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
  • Xeroderma pigmentosum, group F (ERCC4)
  • Xeroderma pigmentosum, group G (ERCC5)
  • Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
  • Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
  • Xeroderma pigmentosum, variant type (POLH)
  • von Hippel-Lindau syndrome (VHL)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Sus
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C80.9

Bioinformatik und klinische Interpretation

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