ErkrankungMagenkrebs, Prädisposition

NGS +

[Sanger]

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)