EPCAM 3' Exon Deletion

CI-VAR-00000027Explore in graph →CIViC 823

Curated evidence

Evidence by cancer (1 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Lynch Syndrome1unmapped disease
EPCAM 3' Exon Deletion	(predisposing)	Predisposing	B	Supports Predisposition	4	accepted	EID1901 Rare but recurring germline truncating mutations of the 3’ end of EPCAM, were reported for 27 independent families, shown to lead to epigenetic silencing of a neighbouring gene, MSH2, and suggested to… (full text at CIViC) PMID 21309036 · Kuiper et al., 2011 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.