IllnessThyroid carcinoma, hereditary; differential diagnosis
Summary
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
40,8 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
APC | 8532 | NM_000038.6 | AD | |
CDKN1B | 597 | NM_004064.5 | AD | |
DICER1 | 5769 | NM_177438.3 | AD | |
NTRK1 | 2373 | NM_001012331.2 | AD | |
PRKAR1A | 1146 | NM_002734.5 | AD | |
PTEN | 1212 | NM_000314.8 | AD | |
RET | 3345 | NM_020975.6 | AD | |
SEC23B | 2304 | NM_006363.6 | AD | |
TP53 | 1182 | NM_000546.6 | AD | |
WRN | 4299 | NM_000553.6 | AR | |
CHEK2 | 1632 | NM_007194.4 | AD | |
FOXE1 | 1122 | NM_004473.4 | AD | |
HABP2 | 1605 | NM_001177660.3 | AD | |
MINPP1 | 939 | NM_001178117.2 | AD | |
MSH2 | 2805 | NM_000251.3 | AD | |
SLC5A5 | 1932 | NM_000453.3 | AR |
Informations about the disease
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/
- 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)
- AD
- AR
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined