©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessThyroid carcinoma, susceptibility

Summary

Short information

A panel containing 1 guideline-curated gene, furthermore 4 core candidate genes and altogether 10 curated genes for the comprehensive analysis of the genetic susceptibility Thyroid carcinomas

ID
SP7140
Number of genes
10 Accredited laboratory test
Examined sequence length
10,6 kb (Core-/Core-canditate-Genes)
30,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + SNP

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CDKN1B597NM_004064.5AD, Sus
PRKAR1A1146NM_002734.5AD, Sus
PTEN1212NM_000314.8AD
RET3345NM_020975.6AD, Sus
WRN4299NM_000553.6AR, Sus
APC8532NM_000038.6AD
DICER15769NM_177438.3AD
MUTYH1650NM_001128425.2AR, Sus
NKX2-11206NM_001079668.3AD
NTRK12373NM_001012331.2AD, Sus

Informations about the disease

Clinical Comment

Although only about 5% of thyroid cancer cases are familial, thyroid cancer shows high heredity (compared to other cancers). Genetic predisposition syndromes account for about 5-15% of non-medullary thyroid cancer cases. Thyroid cancer develops in up to 12% of patients with familial adenomatosis polyposis and in at least 10% of people with Cowden's syndrome. Since genetic predisposition or susceptibility exclusively represents an increased probability of developing thyroid cancer based on a person's genetic predisposition, an unremarkable genetic finding does not mean that a suspected clinical diagnosis can be ruled out.

 

Synonyms
  • Alias: Schilddrüsen-Karzinom, Prädisposition
  • Alias: Thyroid cancer pertinent cancer susceptibility
  • Allelic: Adenoma, periampullary, somatic (APC)
  • Allelic: Adenomas, multiple colorectal (MUTYH)
  • Allelic: Brain tumor-polyposis syndrome 2 (APC)
  • Allelic: Chorea, hereditary benign (NKX2-1)
  • Allelic: Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Allelic: Colorectal cancer, somatic (APC)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: GLOW syndrome, somatic mosaic (DICER1)
  • Allelic: Gardner syndrome (APC)
  • Allelic: Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Allelic: Gastric cancer, somatic (APC)
  • Allelic: Gastric cancer, somatic (MUTYH)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Hepatoblastoma, somatic (APC)
  • Allelic: Hirschsprung disease, protection against/susceptibility to, 1 (RET)
  • Allelic: Insensitivity to pain, congenital, with anhidrosis (NTRK1)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Meningioma (PTEN)
  • Allelic: Myxoma, intracardiac (PRKAR1A)
  • Allelic: Neuroblastoma, susceptibility to, 3 (ALK-fusion)
  • Allelic: Pheochromocytoma (RET)
  • Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Adenoma, periampullary, somatic (APC)
  • Adenomatous polyposis coli (APC)
  • Carney complex, type 1 (PRKAR1A)
  • Cowden syndrome 1 (PTEN)
  • Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Lhermitte-Duclos syndrome (PTEN)
  • Medullary thyroid carcinoma (RET)
  • Multiple endocrine neoplasia IIA (RET)
  • Multiple endocrine neoplasia IIA + IIB (RET)
  • Multiple endocrine neoplasia, type IV (CDKN1B)
  • Thyroid cancer, [guideline] (ALK-fusion)
  • Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Werner syndrome (WRN)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined