Inherited polyposis and early onset colorectal cancer - germline testing
Gene: EPCAMComment on phenotypes: Biallelic variants in this gene are associated with Diarrhea 5, with tufting enteropathy, congenital (MIM# 613217)Created: 8 Mar 2021, 10:03 a.m. | Last Modified: 8 Mar 2021, 10:03 a.m.
Panel Version: 1.7
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: 0.49
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: 31 Jul 2019, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tumor Suppressor: deletion onlyCreated: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch syndrome
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 bystanderCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
Unknown
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
Phenotypes for gene: EPCAM were changed from Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Added phenotypes Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer for gene: EPCAM
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).
gene: EPCAM was added gene: EPCAM was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: EPCAM was set to