Klinische FragestellungKrebs-Vorsorge, genetisch [privatärztliche Leistung]

NGS +

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

• 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)