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

IllnessThyroid carcinoma, hereditary; differential diagnosis

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Summary

Short information

A differential diagnostic panel containing 1 guideline-curated core gene, 9 core-candidate genes and altogther 16 curated genes for the comprehensive analysis of the genetic susceptibility for Thyroid carcinoma, hereditary

ID
SP0140
Number of genes
16 Accredited laboratory test
Examined sequence length
30,8 kb (Core-/Core-canditate-Genes)
40,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APC8532NM_000038.6AD
CDKN1B597NM_004064.5AD
DICER15769NM_177438.3AD
NTRK12373NM_001012331.2AD
PRKAR1A1146NM_002734.5AD
PTEN1212NM_000314.8AD
RET3345NM_020975.6AD
SEC23B2304NM_006363.6AD
TP531182NM_000546.6AD
WRN4299NM_000553.6AR
CHEK21632NM_007194.4AD
FOXE11122NM_004473.4AD
HABP21605NM_001177660.3AD
MINPP1939NM_001178117.2AD
MSH22805NM_000251.3AD
SLC5A51932NM_000453.3AR

Informations about the disease

Clinical Comment

Papillary thyroid carcinoma accounts for 60% of these tumours, follicular forms for just under 20%, medullary (<10%) and other forms such as anaplastic are observed less frequently. Thyroid cancer often occurs in the 30s or more often after the age of 60. Depending on the type of cancer, heredity and patterns of transmission vary. Some medullary carcinomas are more common in families and are associated with multiple cancer syndromes (multiple endocrine neoplasia, MEN). Familial adenomatous polyposis (FAP) is sometimes associated with papillary tumours. Without a positive family history, RET gene mutations are found in only about 7% of patients with medullary carcinomas.

References: https://www.ncbi.nlm.nih.gov/books/NBK1257/

 

Synonyms
  • Alias: Schilddrüsen-Ca, hereditäres
  • Alias: Schilddrüsenkarzinom
  • Alias: Thyroid carcinoma
  • Allelic: Bamforth-Lazarus syndrome (FOXE1)
  • Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Allelic: GLOW syndrome, somatic mosaic (DICER1)
  • Allelic: Insensitivity to pain, congenital, with anhidrosis (NTRK1)
  • Allelic: Multiple endocrine neoplasia IIA (RET)
  • Allelic: Multiple endocrine neoplasia IIB (RET)
  • Allelic: Pheochromocytoma (RET)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Allelic: Venous thromboembolism, susceptibility to (HABP2)
  • Allelic: Werner syndrome (WRN)
  • Carney complex, type 1 (PRKAR1A)
  • Cowden syndrome 1 (PTEN, TP53)
  • Cowden syndrome 7 (SEC23B)
  • Gardner syndrome (APC)
  • Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Inherited non-medullary thyroid cancer (SLC5A5)
  • Medullary thyroid carcinoma (NTRK1)
  • Medullary thyroid carcinoma (RET)
  • Mismatch repair cancer syndrome (MSH2)
  • Multiple endocrine neoplasia IIA (RET)
  • Multiple endocrine neoplasia, type IV (CDKN1B)
  • Thyroid cancer, nonmedullary, 4 (FOXE1)
  • Thyroid cancer, nonmedullary, 5 (HABP2)
  • Thyroid carcinoma, follicular (MINPP1)
  • Thyroid carcinoma, follicular, somatic (HRAS)
  • Thyroid carcinoma, follicular, somatic (NRAS)
  • Thyroid dyshormonogenesis 1 (SLC5A5)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined