GI tract tumours

Gene: EPCAM

Green List (high evidence)

EPCAM (epithelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 12 panels

6 reviews

Ivone Leong (Genomics England Curator)

Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer.
Created: 1 Aug 2019, 4:03 p.m. | Last Modified: 1 Aug 2019, 4:03 p.m.
Panel Version: 1.16
Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 1 Aug 2019, 3:15 p.m. | Last Modified: 1 Aug 2019, 3:15 p.m.
Panel Version: 1.14

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Added 'structural variant' tag.
Created: 11 May 2017, 10:19 a.m.

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Consider adding to panel once SVs are being analysed.
Created: 10 May 2016, 8:52 a.m.
Comment on mode of pathogenicity: A specific structural variant in this gene causes Lynch syndrome by an effect on the MSH2 promoter. Single nucleotide variants have no evidence for association with colon cancer.
Created: 10 May 2016, 8:51 a.m.

Ian Tomlinson (University of Oxford)

Red List (low evidence)

Would not have this separate from MSH2, as EPCAM is probably a bystander
Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
Unknown

Ian Frayling (Cardiff University)

Green List (high evidence)

Mutations listed at http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=EPCAM and also on ClinVar. Biallelic EPCAM mutations affecting MSH2 expression theoretically will produce Constitutional Mismatch Repair Disorder (CMMR-D)
Created: 8 Dec 2015, 2:18 p.m.
http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=EPCAM
Created: 8 Dec 2015, 2:16 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Tags
structural-variant
OMIM
185535
Clinvar variants
Variants in EPCAM
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

1 Aug 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: EPCAM were set to

1 Aug 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: epcam has been classified as Green List (High Evidence).

29 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EPCAM.

12 May 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel

11 May 2017, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for EPCAM was changed to Other - please provide details in the comments

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EPCAM was created by ellenmcdonagh

11 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EPCAM was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Red