Belgian Genetic Tests database- Diseases
- Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1
| Name: |
Multiple endocrine neoplasia type 1
|
| Description: |
A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.
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| ORPHAcode: |
652
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| Synonyms: |
MEN1
Wermer syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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- Genetic disorders of Calcium and Phosphate metabolism (gene panel)
- Hereditary cancer (Breast, ovary, colon) (26 genes)
- Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes)
- Multiple endocrine neoplasia (3 genes)
- Multiple endocrine neoplasia, type 1
- Multiple endocrine neoplasia, type 1 and 4
- Neuroendocrine tumor (NET) (gene panel)
- Onco-endocrine pathologies (gene panel)
- Pituitary adenoma (4 genes)
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Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABRAXAS1 100.00 1 ATM 100.00 1 BARD1 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 BLM 100.00 1 BRIP1 100.00 1 CDH1 100.00 1 CHEK2 100.00 1 EPCAM 100.00 1 MEN1 100.00 1 MLH1 100.00 1 MRE11 100.00 1 MSH2 100.00 1 MSH6 100.00 1 MUTYH 100.00 1 NBN 100.00 1 PALB2 100.00 1 PMS2 100.00 1 PTEN 100.00 1 RAD50 100.00 1 RAD51C 100.00 1 RAD51D 100.00 1 STK11 100.00 1 TP53 100.00 1 XRCC2 100.00 1 -
Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AIRE 95.00 0 NM_000383.4/ interpretable range CS1>95% ALPL 95.00 0 NM_000478.6/ interpretable range CS1>95% AP2S1 95.00 0 NM_004069.6/ interpretable range CS1>95% CASR 95.00 0 NM_000388.4/ interpretable range CS1>95% CDC73 95.00 0 NM_024529.5/ interpretable range CS1>95% CDKN1B 95.00 0 NM_004064.5/ interpretable range CS1>95% CLCN5 95.00 0 NM_000084.5/ interpretable range CS1>95% CYP27B1 95.00 0 NM_000785.4/ interpretable range CS1>95% CYP2R1 95.00 0 NM_024514.5/ interpretable range CS1>95% DMP1 95.00 0 NM_004407.4/ interpretable range CS1>95% ENPP1 95.00 0 NM_006208.3/ interpretable range CS1>95% FAM20C 95.00 0 NM_020223.4/ interpretable range CS1>95% FGF23 95.00 0 NM_020638.3/ interpretable range CS1>95% GATA3 95.00 0 NM_001002295.2/ interpretable range CS1>95% GCM2 95.00 0 NM_004752.4/ interpretable range CS1>95% GNA11 95.00 0 NM_002067.5/ interpretable range CS1>95% GNAS 95.00 0 NM_000516.7/ interpretable range CS1>95% HADHA 95.00 0 NM_000182.5/ interpretable range CS1>95% HADHB 95.00 0 NM_000183.3/ interpretable range CS1>95% MEN1 95.00 0 NM_130799.3/ interpretable range CS1>95% OCRL 95.00 0 NM_000276.4/ interpretable range CS1>95% PHEX 95.00 0 NM_000444.6/ interpretable range CS1>95% PTH 95.00 0 NM_000315.4/ interpretable range CS1>95% PTH1R 95.00 0 NM_000316.3/ interpretable range CS1>95% RET 95.00 0 NM_020975.6/ interpretable range CS1>95% SLC34A1 95.00 0 NM_003052.5/ interpretable range CS1>95% SLC34A3 95.00 0 NM_080877.3/ interpretable range CS1>95% NHERF1 95.00 0 NM_004252.5/ interpretable range CS1>95% STX16 95.00 0 NM_001001433.3/ interpretable range CS1>95% TBCE 95.00 0 NM_003193.5/ interpretable range CS1>95% VDR 95.00 0 NM_001017535.2/ interpretable range CS1>95% -
Multiple endocrine neoplasia (3 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDKN1B 100.00 1 Part of Custom Onco-endocrino panel MEN1 100.00 1 Custom Onco-endocrino panel RET 100.00 1 Custom Onco-endocrino panel -
Neuroendocrine tumor (NET) (9 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MEN1 100.00 1 CDKN1B 10.00 1 RET 100.00 1 SDHB 100.00 1 SDHD 100.00 1 SDHC 100.00 1 SDHA 100.00 1 SDHAF2 100.00 1 VHL 100.00 1 -
Onco-endocine pathologies (50 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AIP 100.00 1 Part of Custom Onco-endocrino panel ALK 100.00 1 Part of Custom Onco-endocrino panel ARMC5 100.00 1 Part of Custom Onco-endocrino panel AXIN2 100.00 1 Part of Custom Onco-endocrino panel BAP1 100.00 1 Part of Custom Onco-endocrino panel CDK4 100.00 1 Part of Custom Onco-endocrino panel CDKN1B 100.00 1 Part of Custom Onco-endocrino panel CDKN2A 100.00 1 Part of Custom Onco-endocrino panel CYLD 100.00 1 Part of Custom Onco-endocrino panel DNMT3A 100.00 1 Part of Custom Onco-endocrino panel EGLN1 100.00 1 Part of Custom Onco-endocrino panel EGLN2 100.00 1 Part of Custom Onco-endocrino panel EGLN3 100.00 1 Part of Custom Onco-endocrino panel EPAS1 100.00 1 Part of Custom Onco-endocrino panel FH 100.00 1 Part of Custom Onco-endocrino panel FLCN 100.00 1 Part of Custom Onco-endocrino panel GOT2 100.00 1 Part of Custom Onco-endocrino panel HIF1A 100.00 1 Part of Custom Onco-endocrino panel HOXB13 100.00 1 Part of Custom Onco-endocrino panel IDH3B 100.00 1 Part of Custom Onco-endocrino panel KIF1B 100.00 1 Part of Custom Onco-endocrino panel KIT 100.00 1 Part of Custom Onco-endocrino panel KMT2D 100.00 1 Part of Custom Onco-endocrino panel MAX 100.00 1 Part of Custom Onco-endocrino panel MC1R 100.00 1 Part of Custom Onco-endocrino panel MDH1 100.00 1 Part of Custom Onco-endocrino panel MDH2 100.00 1 Part of Custom Onco-endocrino panel MEN1 100.00 1 Part of Custom Onco-endocrino panel MERTK 100.00 1 Part of Custom Onco-endocrino panel MET 100.00 1 Part of Custom Onco-endocrino panel MITF 100.00 1 Part of Custom Onco-endocrino panel NF1 100.00 1 Part of Custom Onco-endocrino panel PDGFRA 100.00 1 Part of Custom Onco-endocrino panel PHOX2B 100.00 1 Part of Custom Onco-endocrino panel POT1 100.00 1 Part of Custom Onco-endocrino panel PRKAR1A 100.00 1 Part of Custom Onco-endocrino panel PTCH1 100.00 1 Part of Custom Onco-endocrino panel PTCH2 100.00 1 Part of Custom Onco-endocrino panel RB1 100.00 1 Part of Custom Onco-endocrino panel RET 100.00 1 Part of Custom Onco-endocrino panel SDHA 100.00 1 Part of Custom Onco-endocrino panel SDHAF1 100.00 1 Part of Custom Onco-endocrino panel SDHAF2 100.00 1 Part of Custom Onco-endocrino panel SDHAF3 100.00 1 Part of Custom Onco-endocrino panel SDHB 100.00 1 Part of Custom Onco-endocrino panel SDHC 100.00 1 Part of Custom Onco-endocrino panel SDHD 100.00 1 Part of Custom Onco-endocrino panel SUFU 100.00 1 Part of Custom Onco-endocrino panel TMEM127 100.00 1 Part of Custom Onco-endocrino panel VHL 100.00 1 Part of Custom Onco-endocrino panel -
Pituitary adenoma (4 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MEN1 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing) AIP 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing) CDKN1B 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing) PRKAR1A 100.00 0 Coding exons and intronic borders +-14bp (Sanger sequencing)