Table 1

Characteristics of patients with constitutional epimutations

					% MLH1 methylation			MLH1 genotype
	Age (years)	Sex	rBG	CRC location	Sample	C	D	Promoter variant	Mutation analysis	IHC loss	BRAF	Familial history	MLH1 methylation in relatives*
#1	62	F	Multiple LS related cancers	Right	Bladder	81	100	None	NI	MLH1/PMS2	WT	Sister gastric cancer 60 years old	Five children
#1	62	F	Multiple LS related cancers	Right	Blood	48	52	None	NI	MLH1/PMS2	WT	Sister gastric cancer 60 years old	Five children
#2	40	M	Age <50 years	Left	CRC (right)	84	98	None	NI	MLH1/PMS2	WT	None	None
#2	48	M	Metachronous CRC	Right	Blood	64	68	None	NI	MLH1/PMS2	WT	None	None
#3	44	M	Age <50 years	Right	CRC	50	50	None	NI	MLH1/PMS2	WT	None	Two siblings and mother
					Normal colon	38	68
					Blood	70	82
#4	30	M	Age <50 years	Right	CRC	56	58	None	NI	MLH1/PMS2	WT	None	None
					Blood	49	54
					Normal colon	51	64
					Normal small bowel	52	49
					Buccal mucosa	75	44
#5	39	M	Age <50 years	Right	CRC	80	90	−93G/A	NI	MLH1/PMS2	WT	None	Three siblings
					Blood	49	50
					Saliva	50	53

*All relatives tested were negative for MLH1 methylation.
CRC, colorectal cancer; IHC, immunohistochemistry; LS, Lynch syndrome; NI, non-informative; rBG, revised Bethesda guideline; WT, wildtype.