Table 1.

EPCAM deletion carriers

Family ID	Patient ID	Sex	Clinical phenotype	IHC MSH2/MSH6	MSI	MSH2 methylation	Somatic LOH
PD31	CFS394	F	CRC 45 yb, 55 y		H
	CFS395a	M	CRC 43, 68 yb, duodenum 62 y, larynxc 67 y	−/Cytoplasmic	H	33%(N) 23%(T)	No
	CFS890	M	Healthy 37 y
	CFS892	F	Healthy 39 y
	CFS918	F	CRC 32 y, breastc 47 y
	CFS919	F	Healthy 44 y
	CFS920	M	Healthy 57 y
AV114	CFS396a	F	CRC 36, 54 yb, 54 y	Cytoplasmic/cytoplasmic	H	29%(N) 50%(T)	EPCAM‐MSH2‐MSH6 loss
	CFS487	M	CRC 42 yb	Cytoplasmic/cytoplasmic	H	Not evaluable	EPCAM‐MSH2‐MSH6 loss
	CFS488	F	Healthy 35 y
	CFS516	M	CRC 25 yb		H
UD18	CFS825a	M	CRC 39, 53 yb	−/−	H	23%(T)	No
	CFS913	M	Healthy 19 y
	CFS914	M	Healthy 21 y
AV182	CFS1043a	M	CRC 50, 50, 63 yb	−/−	H	23%(T)	EPCAM loss
PD78	CFS1475a	M	CRC 34 yb	Focal/+	H	23%(T)	No
	CFS1541	M	Healthy 39 y

CRC, colorectal cancer; H, MSI‐H; IHC, immunoistochemistry; LOH, loss of heterozygosity; LS, Lynch Syndrome; MSI, microsatellite instability; N, normal mucosa; T, tumor; y, years (age of tumor onset, if affected, and age at registration, if healthy).

^aProbands.

^bTumors tested.

^cTumors not included in LS spectrum.