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

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

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS + SNP

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CDKN1B	597	600778	NM_004064.5	AD, Sus
PRKAR1A	1146	188830	NM_002734.5	AD, Sus
PTEN	1212	601728	NM_000314.8	AD
RET	3345	164761	NM_020975.6	AD, Sus
WRN	4299	604611	NM_000553.6	AR, Sus
APC	8532	611731	NM_000038.6	AD
DICER1	5769	606241	NM_177438.3	AD
MUTYH	1650	604933	NM_001128425.2	AR, Sus
NKX2-1	1206	600635	NM_001079668.3	AD
NTRK1	2373	191315	NM_001012331.2	AD, 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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined