ErkrankungMagenkrebs, Prädisposition
Zusammenfassung
Umfassendes differentialdiagnostisches panel zur Abklärung der Prädisposition für Magenkrebs mit 9 core bzw. core-candidate Genen und insgesamt 43 kuratierten Genen (gemäß klinischer Verdachtsdiagnose)
102,1 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CDH1 | 2649 | AD und/oder SMu und/oder Sus | |
CTNNA1 | 2721 | AD und/oder Sus | |
EPCAM | 945 | AR und/oder SMu und/oder Sus | |
KIT | 2931 | AD und/oder AR und/oder SMu und/oder Sus | |
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 | |
PMS2 | 2589 | AR und/oder Sus | |
SDHA | 1995 | AD und/oder AR und/oder Sus | |
APC | 8532 | AD und/oder Sus | |
ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
BMPR1A | 1599 | AD und/oder Sus | |
BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
CASP10 | 1368 | AD und/oder Sus | |
CTNNB1 | 2346 | AD und/oder SMu und/oder Sus | |
DKK2 | 780 | Mult und/oder SMu und/oder Sus | |
DKK4 | 675 | Mult und/oder SMu und/oder Sus | |
ERBB2 | 3768 | Mult und/oder SMu und/oder Sus | |
ERCC6 | 4482 | AD und/oder AR und/oder SMu und/oder Sus | |
ERCC8 | 1191 | AR und/oder Sus | |
FGFR2 | 2466 | AD und/oder Sus | |
FZD1 | 1944 | Mult und/oder SMu und/oder Sus | |
IL1B | 810 | AD und/oder Sus | |
IL1RN | 543 | AD und/oder AR und/oder Sus | |
IRF1 | 978 | SMu und/oder Sus | |
KLF6 | 726 | SMu und/oder Sus | |
KRAS | 567 | AD und/oder SMu und/oder Sus | |
MAP3K6 | 3867 | Mult und/oder SMu und/oder Sus | |
MUTYH | 1650 | AR und/oder Sus | |
PALB2 | 3561 | AD und/oder Sus | |
PIK3CA | 3207 | AD und/oder SMu und/oder Sus | |
PTEN | 1212 | AD und/oder SMu und/oder Sus | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
SPRED1 | 1335 | AD und/oder Sus | |
STK11 | 1302 | AD und/oder Sus | |
TP53 | 1182 | AD und/oder SMu und/oder Sus | |
WNT1 | 1113 | AD und/oder AR und/oder Sus | |
WNT10A | 1254 | AD und/oder AR und/oder Dig und/oder Sus | |
WNT10B | 1170 | AR und/oder Sus | |
WNT3 | 1068 | AR und/oder Sus | |
WNT4 | 1056 | AD und/oder AR und/oder Sus | |
WNT5A | 1143 | AD und/oder Sus | |
WNT9A | 1098 | Mult und/oder SMu und/oder Sus |
Infos zur Erkrankung
Magenkrebs ist die dritthäufigste Malignom-Todesursache weltweit mit den höchsten Raten in Ostasien, Südamerika und Osteuropa. Bei 15% der Betroffenen bestehen familiäre Vorbelastungen für die Erkrankung. Zu den umweltbedingten Risikofaktoren für Magenkrebs gehören Rauchen, geräucherte Lebensmittel, gesalzener Fisch/Fleisch, eingelegtes Gemüse, Helicobacter pylori-Infektion, adenomatöse Polypen, chronische atrophische Gastritis usw. Erbliche Syndrome mit Magenkrebs-Prädisposition betreffen den hereditären diffusen Magenkrebs (HDGC), das Lynch Syndrom, die familiäre adenomatöse Polyposis, die juvenile Polyposis und das Peutz-Jeghers-Syndrom. Eine recht große Zahl weiterer Gene trägt jeweils mit einem sehr geringen Risikozuwachs zur Magenkrebsprädisposition bei. HDGC ist das häufigste genetisch prädisponierende Syndrom für Magenkrebs, wobei Keimbahn-Mutationen des E-Cadherin-Gens (CDH1) in 30-50% der Magenkarzinome vom diffusen Typ nachgewiesen werden. Familien, die diese Mutationen aufweisen, weisen ein autosomal-dominantes Vererbungsmuster mit sehr hoher Penetranz auf; die meisten anderen Magenkarzinome scheinen multifaktoriell bedingt zu sein. Negative molekulargenetische Ergebnisse schließen die klinische Diagnose keinesfalls aus.
Referenz: https://doi.org/10.1016/S2468-1253(18)30237-1
- Alias: Hereditary diffuse gastric adenocarcinoma
- Alias: Predisposition to gastric cancer
- Allelic: Adenomas, multiple colorectal (MUTYH)
- Allelic: Adenomatous polyposis coli (APC)
- Allelic: Adrenocortical carcinoma, pediatric (TP53)
- Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
- Allelic: Basal cell carcinoma 7 (TP53)
- Allelic: Bladder cancer, somatic (KRAS)
- Allelic: Blepharocheilodontic syndrome 1 (CDH1)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Brain tumor-polyposis syndrome 2 (APC)
- Allelic: Breast cancer, lobular (CDH1)
- Allelic: Breast cancer, male, susceptibility to (BRCA2)
- Allelic: Breast cancer, somatic (KRAS, TP53)
- Allelic: Breast cancer, somatic (TP53)
- Allelic: Breast cancer, susceptibility to (ATM, PALB2)
- Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
- Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
- Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
- Allelic: Choroid plexus papilloma (TP53)
- Allelic: Colorectal cancer (TP53)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
- Allelic: Colorectal cancer, somatic (APC)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Desmoid disease, hereditary (APC)
- Allelic: Endometrial cancer, familial (MSH6)
- Allelic: Endometrial carcinoma, somatic (CDH1)
- Allelic: Exudative vitreoretinopathy [MONDO:0019516] (CTNNA1)
- Allelic: Fanconi anemia, complementation group D1 (BRCA2)
- Allelic: Fanconi anemia, complementation group N (PALB2)
- Allelic: Gardner syndrome (APC)
- Allelic: Glioblastoma 3 (BRCA2)
- Allelic: Glioma susceptibility 1 (TP53)
- Allelic: Hepatocellular carcinoma, somatic (TP53)
- Allelic: Interleukin 1 receptor antagonist deficiency (IL1RN)
- Allelic: Leukemia, acute myeloid, somatic (KRAS)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Lung cancer, somatic (KRAS)
- Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
- Allelic: Lymphoma, mantle cell, somatic (ATM)
- Allelic: Macrocephaly
- Allelic: Macular dystrophy, patterned, 2 (CTNNA1)
- Allelic: Mastocytosis, cutaneous (KIT)
- Allelic: Medulloblastoma (BRCA2)
- Allelic: Microvascular complications of diabetes 4 (IL1RN)
- Allelic: Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
- Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
- Allelic: Muir-Torre syndrome (MLH1)
- Allelic: Muir-Torre syndrome (MLH1, MSH2)
- Allelic: Nasopharyngeal carcinoma, somatic (TP53)
- Allelic: Neurodegeneration with ataxia and late-onset optic atrophy (SDHA)
- Allelic: Noonan syndrome 3 (KRAS)
- Allelic: Oculoectodermal syndrome, somatic (KRAS)
- Allelic: Osteosarcoma (TP53)
- Allelic: Ovarian cancer, somatic (CDH1)
- Allelic: Pancreatic cancer 2 (BRCA2)
- Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
- Allelic: Pancreatic carcinoma, somatic (KRAS, TP53)
- Allelic: Paragangliomas 5 (SDHA)
- Allelic: Piebaldism (KIT)
- Allelic: Prostate cancer (BRCA2)
- Allelic: Prostate cancer, susceptibility to (CDH1)
- Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
- Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS)
- Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
- Allelic: Wilms tumor (BRCA2)
- Ataxia-telangiectasia (ATM)
- Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
- Gastric cancer risk after H. pylori infection (IL1B, IL1RN)
- Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
- Gastric cancer, somatic (KRAS)
- Gastric cancer, somatic (MUTYH)
- Gastrointestinal stromal tumor, familial (KIT)
- Hereditary Diffuse Gastric Cancer predisposing (CTNNA1)
- Li-Fraumeni syndrome (TP53)
- Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
- Peutz-Jeghers syndrome (STK11)
- autism syndrome (PTEN)
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- 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 und/oder Sus
- SMu und/oder Sus
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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