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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