Klinische FragestellungGastrointestinale Tumore, monogen; Differentialdiagnose

NGS +

[Sanger]

• Alias: GI tract tumours
• Allelic: Adenoma, periampullary, somatic (APC)
• Allelic: Blepharocheilodontic syndrome 1 (CDH1)
• Allelic: Brain tumor-polyposis syndrome 2 (APC)
• Allelic: Breast cancer, lobular (CDH1)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Endometrial carcinoma, somatic (CDH1)
• Allelic: FILS syndrome (POLE)
• Allelic: Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
• Allelic: Gastric cancer, somatic (APC)
• Allelic: Gastric cancer, somatic (MUTYH)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Hepatoblastoma, somatic (APC)
• Allelic: IMAGE-I syndrome (POLE)
• Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
• Allelic: Melanoma, malignant, somatic (STK11)
• Allelic: Meningiom (PTEN)
• Allelic: Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Allelic: Muir-Torre syndrome (MLH1, MSH2)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Ovarian cancer, somatic (CDH1)
• Allelic: Pancreatic cancer, somatic (SMAD4)
• Allelic: Pancreatic cancer, somatic (STK11)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Prostate cancer, susceptibility to (CDH1)
• Allelic: Testicular tumor, somatic (STK11)
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli (APC)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Breast cancer, susceptibility to (PALB2)
• Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: Fanconi anemia, complementation group D1 (BRCA2)
• Allelic: Fanconi anemia, complementation group N (PALB2)
• Allelic: Fanconi anemia, complementation group S (BRCA1)
• Allelic: Uveal melanoma, susceptibility to, 1 (MBD4)
• Allelic: Wilms tumor (BRCA2)
• Ataxia-telangiectasia (ATM)
• 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, somatic (APC)
• Colorectal cancer, susceptibility to, 10 (POLD1)
• Colorectal cancer, susceptibility to, 12 (POLE)
• Cowden syndrome 1 (PTEN)
• Familial adenomatous polyposis 1 (APC)
• Familial adenomatous polyposis 2 (MUTYH)
• Familial adenomatous polyposis 3 (NTHL1)
• Gardner syndrome (APC)
• Juvenile polyposis syndrome, infantile form (BMPR1A)
• Lhermitte-Duclos syndrome (PTEN)
• Melanoma-pancreatic cancer syndrome (CDKN2A)
• Pancreatic cancer 2 (BRCA2)
• Pancreatic cancer, susceptibility to, 3 (PALB2)
• Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Peutz-Jeghers syndrome (STK11)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Tumor predisposition syndrome 2 (MBD4)