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Table 3 Heterozygous inactivation of EPCAM and/or MSH2 in colorectal and endometrial cancer risk of carriers of different germline mutations inactivating MSH2 , elaborated by Ligtenberg et al. (2012)

From: Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review

 

Gene inactivation

Cancer risk

 

EPCAM

MSH2

Colorectal

Endometrial

3’ end EPCAM deletion

Yes

Mosaic

High

Low

EPCAM-MSH2 deletion

Yes

Yes

High

High

Intragenic MSH2 deletion

No

Yes

High

High