- Analytes
- EPCAM
EPCAM
Name: |
epithelial cell adhesion molecule
|
Symbol: |
EPCAM
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
17-1A
323/A3
CD326
CO-17A
EGP-2
EGP34
EGP40
ESA
Ep-CAM
GA733-2
HEA125
KS1/4
KSA
Ly74
MH99
MK-1
MOC31
TACST-1
TROP1
trophoblast cell surface antigen 1
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Adenomatous polyposis, familial (gene panel)
- Breast and Ovarian Cancer, HBOC, Familial (17 genes)
- Breast and Ovarian cancer, HBOC, familial (gene panel - 26 genes)
- Breast cancer, hereditary (gene panel)
- Colorectal cancer / Polyposis (gene panel)
- Colorectal cancer, hereditary (gene panel)
- Familial cancer predisposition (gene panel)
- Gastric Cancer (10 genes)
- Hereditary cancer (Breast, ovary, colon) (26 genes)
- Hereditary cancer (gene panel)
- Hereditary cancer panel (gene panel)
- Hereditary nonpolyposis colorectal cancer (gene panel)
- Hereditary nonpolyposis colorectal cancer / Lynch syndrome (8 genes)
- Pancreatic cancer (12 genes)
- Pediatric oncopredisposition (gene panel)
-
Extended Breast Cancer Panel (26 gene) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATM 100.00 1 No comment BARD1 100.00 1 No comment BLM 100.00 1 No comment BRCA1 100.00 1 No comment BRCA2 100.00 1 No comment BRIP1 100.00 1 No comment CDH1 100.00 1 No comment CHEK2 100.00 1 No comment EPCAM 100.00 1 No comment ABRAXAS1 100.00 1 No comment MEN1 100.00 1 No comment MLH1 100.00 1 No comment MRE11 100.00 1 No comment MSH2 100.00 1 No comment MSH6 100.00 1 No comment MUTYH 100.00 1 No comment NBN 100.00 1 No comment PALB2 100.00 1 No comment PMS2 100.00 1 No comment PTEN 100.00 1 No comment RAD50 100.00 1 No comment RAD51C 100.00 1 No comment RAD51D 100.00 1 No comment STK11 100.00 1 No comment TP53 100.00 1 No comment XRCC2 100.00 1 No comment -
Breast/Ovarian cancer (26 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 Core gene BRCA2 100.00 1 Core gene TP53 100.00 1 Core gene PALB2 100.00 1 Core gene CHEK2 100.00 1 Core gene for c.1100delC ATM 100.00 1 BARD1 100.00 1 BRIP1 100.00 1 CDH1 100.00 1 EPCAM 100.00 1 ABRAXAS1 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 PIK3CA 100.00 1 PMS2 100.00 1 PMS2CL 100.00 1 PTEN 100.00 1 RAD50 100.00 1 RAD51C 100.00 1 RAD51D 100.00 1 STK11 100.00 1 XRCC2 100.00 1 -
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 -
Colorectal cancer/polyposis (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PMS2 100.00 1 EPCAM 100.00 1 POLD1 100.00 1 POLE 100.00 1 CHEK2 100.00 1 TP53 100.00 1 APC 100.00 1 STK11 100.00 1 BMPR1A 100.00 1 SMAD4 100.00 1 PTEN 100.00 1 RNF43 100.00 1 NTHL1 100.00 1 MSH3 100.00 1 MUTYH 100.00 1 -
Gastric cancer (10 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 CDH1 100.00 1 TP53 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 EPCAM 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PMS2 100.00 1 -
Hereditary Cancer Solution (35 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 ISO15189 ATM 100.00 1 ISO15189 BAP1 100.00 1 ISO15189 BARD1 100.00 1 ISO15189 BMPR1A 100.00 1 ISO15189 BRCA1 100.00 1 ISO15189 BRCA2 100.00 1 ISO15189 BRIP1 100.00 1 ISO15189 CDH1 100.00 1 ISO15189 CDKN2A 100.00 1 ISO15189 CHEK2 100.00 1 ISO15189 EPCAM 100.00 1 ISO15189 GREM1 100.00 1 ISO15189 MLH1 100.00 1 ISO15189 MRE11 100.00 1 ISO15189 MSH2 100.00 1 ISO15189 MSH3 100.00 1 ISO15189 MSH6 100.00 1 ISO15189 MUTYH 100.00 1 ISO15189 NBN 100.00 1 ISO15189 NTHL1 100.00 1 ISO15189 PALB2 100.00 1 ISO15189 PIK3CA 100.00 1 ISO15189 PMS2 100.00 1 ISO15189 POLD1 100.00 1 ISO15189 POLE 100.00 1 ISO15189 PTEN 100.00 1 ISO15189 RAD50 100.00 1 ISO15189 RAD51C 100.00 1 ISO15189 RAD51D 100.00 1 ISO15189 SCG5 100.00 1 ISO15189 SMAD4 100.00 1 ISO15189 STK11 100.00 1 ISO15189 TP53 100.00 1 ISO15189 XRCC2 100.00 1 ISO15189 -
Hereditary breast and ovarian cancer (26 genes) - CHULg
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATM 100.00 -2 BARD1 100.00 -2 BLM 100.00 -2 BRCA1 100.00 -2 BRCA2 100.00 -2 BRIP1 100.00 -2 CDH1 100.00 -2 CHEK2 100.00 -2 EPCAM 100.00 -2 ABRAXAS1 100.00 -2 MEN1 100.00 -2 MLH1 100.00 -2 MRE11 100.00 -2 MSH2 100.00 -2 MSH6 100.00 -2 MUTYH 100.00 -2 NBN 100.00 -2 PALB2 100.00 -2 PMS2 100.00 -2 PTEN 100.00 -2 RAD50 100.00 -2 RAD51C 100.00 -2 RAD51D 100.00 -2 STK11 100.00 -2 TP53 100.00 -2 XRCC2 100.00 -2 -
Hereditary cancer predisposition - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABRAXAS1 100.00 0 ACD 100.00 0 AIP 100.00 0 AMER1 100.00 0 APC 100.00 0 ATM 100.00 0 AXIN2 100.00 0 BAP1 100.00 0 BARD1 100.00 0 BLM 100.00 0 BMPR1A 100.00 0 BRCA1 100.00 0 BRCA2 100.00 0 BRIP1 100.00 0 BUB1B 100.00 0 BUB3 100.00 0 CDH1 100.00 0 CDK12 100.00 0 CDK4 100.00 0 CDKN1B 100.00 0 CDKN2A 100.00 0 CHEK1 100.00 0 CHEK2 100.00 0 CTNNA1 100.00 0 CTNNB1 100.00 0 DICER1 100.00 0 EDN3 100.00 0 EDNRB 100.00 0 EPCAM 100.00 0 ERCC4 100.00 0 FANCA 100.00 0 FANCB 100.00 0 FANCC 100.00 0 FANCD2 100.00 0 FANCE 100.00 0 FANCF 100.00 0 FANCG 100.00 0 FANCI 100.00 0 FANCL 100.00 0 FANCM 100.00 0 FH 100.00 0 FLCN 100.00 0 GDNF 100.00 0 GREM1 100.00 0 HNF1B 100.00 0 HOXB13 100.00 0 MAD2L2 100.00 0 MAX 100.00 0 MEN1 100.00 0 MET 100.00 0 MITF 100.00 0 MLH1 100.00 0 MRE11 100.00 0 MSH2 100.00 0 MSH3 100.00 0 MSH6 100.00 0 MUTYH 100.00 0 NBN 100.00 0 NRG3 100.00 0 NRTN 100.00 0 NTHL1 100.00 0 PALB2 100.00 0 PALLD 100.00 0 PBRM1 100.00 0 PMS2 100.00 0 POLD1 100.00 0 POLE 100.00 0 POT1 100.00 0 PPP2R2A 100.00 0 PTEN 100.00 0 RABL3 100.00 0 RAD50 100.00 0 RAD51 100.00 0 RAD51B 100.00 0 RAD51C 100.00 0 RAD51D 100.00 0 RAD54L 100.00 0 RECQL 100.00 0 RET 100.00 0 RFWD3 100.00 0 RNF43 100.00 0 SDHA 100.00 0 SDHAF2 100.00 0 SDHB 100.00 0 SDHC 100.00 0 SDHD 100.00 0 SEMA3C 100.00 0 SEMA3D 100.00 0 SLX4 100.00 0 SMAD4 100.00 0 SMARCA4 100.00 0 SOX10 100.00 0 SPINK1 100.00 0 STK11 100.00 0 SUCLG2 100.00 0 TERF2IP 100.00 0 TERT 100.00 0 TMEM127 100.00 0 TP53 100.00 0 TSC1 100.00 0 TSC2 100.00 0 UBE2T 100.00 0 VHL 100.00 0 WT1 100.00 0 XRCC2 100.00 0 MBD4 100.00 0 NRG1 100.00 0 -
Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 BMPR1A 100.00 1 GREM1 100.00 1 CNV for recurrent 40kb duplication MLH1 100.00 1 MSH2 100.00 1 MSH3 100.00 0 MSH6 100.00 1 MUTYH 100.00 1 NTHL1 100.00 0 PMS2 100.00 1 POLD1 100.00 0 POLE 100.00 1 PTEN 100.00 1 SMAD4 100.00 1 STK11 100.00 1 RNF43 100.00 0 AXIN2 100.00 0 EPCAM 100.00 1 CNV for EPCAM exon 7-9 and region between EPCAM and MSH2 -
Hereditary predisposition to cancer (47 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 NM_000038.6 ATM 100.00 1 NM_000051.3 BAP1 100.00 1 NM_004656.4 BARD1 100.00 1 NM_000465.4 BMPR1A 100.00 1 NM_004329.3 BRCA1 100.00 1 NM_007294.4 BRCA2 100.00 1 NM_000059.3 BRIP1 100.00 1 NM_032043.3 CDH1 100.00 1 NM_004360.5 CDKN1B 100.00 1 NM_004064.4 CDKN2A 100.00 1 NM_001195132.1 CHEK2 100.00 1 NM_007194.4 EPCAM 100.00 1 NM_002354.3 GATA2 100.00 1 NM_032638.5 GREM1 100.00 1 NM_013372.7 MEN1 100.00 1 NM_001370259.2 MLH1 100.00 1 NM_000249.4 MSH2 100.00 1 NM_000251.3 MSH3 100.00 1 NM_002439.5 MSH6 100.00 1 NM_000179.3 MUTYH 100.00 1 NM_001128425.2 NBN 100.00 1 NM_002485.5 NTHL1 100.00 1 NM_002528.7 PALB2 100.00 1 NM_024675.4 PIK3CA 100.00 1 NM_006218.4 PMS2 100.00 1 NM_000535.7 POLD1 100.00 1 NM_002691.4 POLE 100.00 1 NM_006231.4 PTEN 100.00 1 NM_000314.8 RAD50 100.00 1 NM_005732.4 RAD51C 100.00 1 NM_058216.3 RAD51D 100.00 1 NM_002878.3 RPS20 100.00 1 NM_001146227.2 SCG5 100.00 1 NM_001144757.2 SMAD4 100.00 1 NM_005359.6 STK11 100.00 1 NM_000455.5 TP53 100.00 1 NM_000546.5 WWP1 100.00 1 NM_007013.4 AXIN2 100.00 1 NM_004655.4 CDK4 100.00 1 NM_000075.4 DICER1 100.00 1 NM_030621.4 HOXB13 100.00 1 NM_006361.6 NF1 100.00 1 NM_001042492.3 POT1 100.00 1 NM_015450.3 PTCH1 100.00 1 NM_000264.5 RB1 100.00 1 NM_000321.2 RET 100.00 1 NM_020975.6 -
Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 CNV assessed by MLPA MSH2 100.00 1 CNV assessed by MLPA MSH6 100.00 1 CNV assessed by MLPA EPCAM 100.00 0 TP53 100.00 1 CNV assessed by MLPA MUTYH 100.00 1 CNV assessed by MLPA (on demand) POLE 100.00 0 POLD1 100.00 0 -
Lynch syndrome/hereditary nonpolyposis colorectal cancer (5 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 MSH2 MSH6 PMS2 EPCAM -
Lynch syndrome/hereditary nonpolyposis colorectal cancer (5 genes) - UCL - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PMS2 MLH1 MSH2 MSH6 EPCAM -
Pancreas cancer (12 genes-) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 BRCA2 100.00 1 ATM 100.00 1 CDK4 100.00 1 CDKN2A 100.00 1 EPCAM 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PALB2 100.00 1 STK11 100.00 1 TP53 100.00 1 -
Pediatric oncopredisposition - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 99.97 1 ABCB11 99.86 1 ACD 100.00 1 AIP 99.99 1 ALK 99.93 1 APC 99.97 1 ASXL1 100.00 1 ATM 99.83 1 RNF2 99.99 1 BLM 99.80 1 BMPR1A 99.58 1 BRAF 99.78 1 BRCA1 98.33 1 BRCA2 99.99 1 BRIP1 99.39 1 BUB1B 100.00 1 CBL 99.95 1 CD27 99.95 1 CD70 99.99 1 CDC73 99.60 1 CDH1 99.98 1 CDK4 100.00 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDKN2A 100.00 1 CEBPA 100.00 1 CEP57 99.92 1 CREBBP 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTR9 99.98 1 DDB2 100.00 1 DICER1 99.96 1 DIS3L2 99.90 1 DKC1 99.59 1 DNAJC21 99.67 1 EFL1 99.83 1 EGLN1 99.86 1 EGLN2 99.97 1 ELP1 99.96 1 EPAS1 99.99 1 EPCAM 99.89 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6L2 99.94 1 ETV6 99.99 1 EZH2 99.89 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FAS 99.99 1 FBXW7 99.90 1 FH 99.95 1 GATA1 99.97 1 GATA2 99.99 1 GPC3 99.60 1 GPC4 99.89 1 GPR161 99.92 1 HAVCR2 99.93 1 HRAS 100.00 1 IKZF1 99.92 1 ITK 99.91 1 KRAS 99.13 1 L2HGDH 99.92 1 LIG4 100.00 1 LZTR1 99.46 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAX 99.96 1 MDH2 99.54 1 MDM4 99.43 1 MEN1 99.98 1 MLH1 99.64 1 MRAS 99.97 1 MSH2 99.23 1 MSH6 99.97 1 MYSM1 94.16 1 NBN 99.93 1 NF1 99.88 1 NF2 100.00 1 NHP2 99.96 1 NOP10 99.99 1 NRAS 99.66 1 NSD1 99.98 1 PALB2 99.71 1 PARN 99.75 1 PAX5 99.82 1 PHOX2B 99.98 1 PIK3CA 99.74 1 PMS2 70.47 1 POLD1 99.96 1 POLE 99.99 1 POLH 99.85 1 POT1 99.91 1 PPP1CB 99.89 1 PRF1 100.00 1 PRKAR1A 100.00 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 RAF1 99.97 1 RB1 99.84 1 RECQL4 100.00 1 REST 99.99 1 RET 99.97 1 RIT1 99.78 1 RMRP 100.00 1 RPL11 99.81 1 RPL15 31.77 1 RPL18 100.00 1 RPL26 30.55 1 RPL27 99.83 1 RPL35 99.99 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS15A 22.14 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS27 27.45 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RRAS 99.98 1 RRAS2 99.94 1 RTEL1 100.00 1 RUNX1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SBDS 99.93 1 SDHA 99.98 1 SDHAF2 99.96 1 SDHB 97.32 1 SDHC 99.67 1 SDHD 82.93 1 SETBP1 100.00 1 SH2D1A 98.98 1 SHOC2 99.96 1 SLX4 100.00 1 SMARCA4 99.99 1 SMARCB1 99.99 1 SMARCE1 99.87 1 SOS1 99.68 1 SOS2 99.39 1 SRP72 99.91 1 STK11 100.00 1 SUFU 100.00 1 TERC 98.59 1 TERT 100.00 1 TINF2 100.00 1 TMEM127 99.99 1 TP53 99.98 1 TRIM28 100.00 1 TRIM37 98.19 1 TRIP13 100.00 1 TSC1 99.99 1 TSC2 99.98 1 TSR2 99.96 1 UBE2T 99.89 1 USB1 89.62 1 VHL 100.00 1 WAS 99.90 1 WRAP53 100.00 1 WT1 99.99 1 XPA 99.68 1 XPC 99.98 1 SRP54 99.90 1