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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGastrointestinal tumors, monogeneic; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for monogenic gastrointestinal tumors comprising 6 core candidate genes and altogether 22 curated genes according to the clinical signs

ID
GP4488
Number of loci
Locus typeCount
Gen 20
Accredited laboratory test
Examined sequence length
22,0 kb (Core-/Core-canditate-Genes)
72,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APC8532NM_000038.6AD
MLH12271NM_000249.4AD, AR
MSH22805NM_000251.3AD, Sus
MSH64083NM_000179.3AD, Sus
MUTYH1650NM_001128425.2AR, Sus
PMS22589NM_000535.7AD, Sus, AR
AKT11443NM_005163.2AD
ATM9171NM_000051.4AR
BMPR1A1599NM_004329.3AD
BRCA15592NM_007294.4n.k.
BRCA210257NM_000059.4n.k.
CDH12649NM_004360.5n.k.
EPCAM945NM_002354.3AD
NTHL1915NM_002528.7AR
PALB23561NM_024675.4AD
POLD13324NM_002691.4AD
POLE6861NM_006231.4AD
PTEN1212NM_000314.8AD
SMAD41659NM_005359.6AD
STK111302NM_000455.5AD

Informations about the disease

Clinical Comment

Monogen erbliche Tumorsyndrome des Magen-Darm-Trakts beruhen auf einer genetischen Prädisposition durch pathogene Varianten in Schlüsselgenen der Karzinogenese. Hinweise für das Vorliegen einer hereditären Form sind eine ungewöhnlich frühe Manifestation und Häufung von Tumoren eines typischen Spektrums in der Eigen- und/oder Familienanamnese. Die frühe Erkennung und korrekte Einordnung ist wichtig, da häufig effektive präventive und therapeutische Maßnahmen bei Betroffenen und Risikopersonen verfügbar sind. Die Identifizierung einer ursächlichen Keimbahnmutation bei einer erkrankten Person der Familie dient der Differenzialdiagnose, Ermittlung des Wiederholungsrisikos und der prädiktiven Testung asymptomatischer Risikopersonen. Das hier verwendete Panel adressiert insbesondere familiäre Polyposis-Syndrome, die hereditären nicht-polypösen Darmkrebs-Syndrome (Lynch-Syndrome) und das Magenkarzinom.

Literatur: Setia et al. Oncologist. (2015) 20:1365-77.

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined