GI tract tumoursGene: EPCAM
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
Variants in this GENE are reported as part of current diagnostic practice
Added 'structural variant' tag.
Created: 11 May 2017, 10:19 a.m.
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.
Would not have this separate from MSH2, as EPCAM is probably a bystander
Created: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
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.
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
Publications for gene: EPCAM were set to
Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: epcam has been classified as Green List (High Evidence).
Source NHS GMS was added to EPCAM.
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
Mode of pathogenicity for EPCAM was changed to Other - please provide details in the comments
EPCAM was created by ellenmcdonagh
EPCAM was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Red