GI tract tumours
Gene: EPCAMEnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 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)
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)
Would not have this separate from MSH2, as EPCAM is probably a bystanderCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
Unknown
Ian Frayling (Cardiff University)
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=EPCAMCreated: 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
-
- Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
- Tags
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Adult solid tumours for rare disease
- Familial breast cancer
- GI tract tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Adult solid tumours cancer susceptibility
- Intestinal failure or congenital diarrhoea
- Inherited ovarian cancer (without breast cancer)
- Inherited polyposis and early onset colorectal cancer - germline testing
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPCAM were changed from Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: EPCAM were set to
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: epcam has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to EPCAM.
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
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for EPCAM was changed to Other - please provide details in the comments
Added New Source
Ellen McDonagh (Genomics England Curator)EPCAM was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)EPCAM was created by ellenmcdonagh