Table 1 Characteristics of patients with a germline mutation in MSH6

		MSI high
Tested cancer and age at diagnosis	Pathogenic mutation *MSH6*	Instable mono-nucleotides	Instable di-nucleotides	IHC *MSH6*	IHC *MSH2*	Amsterdam criteria II	Bethesda A	Bethesda B	EN in family	CRC in family
CO 42	c.265−?_457+?dup	2/3	2/3	Neg	Pos	+	−	+	+	+
EN 57^a	c.814G>T (p.Glu272X)	3/3	0/3	Neg	Pos	+	−	+	+	+
CO 52^b	c.651dup (p.Lys218X)	2/2	3/3	Neg	Pos	+	+ EN 37	+	+	+
CO 58 ^b	c.651dup (p.Lys218X)	3/3	2/3	Neg	Neg	+	+ CO 60	+	+	+
EN 36	c.3838C>T (p.Gln1280X)	2/2	1/3	Neg	Pos	+	−	+	+	+
CO 50	c.3273dup (p.Lys1092X))	2/2	2/3	Neg	Pos	+	+CO 46/CO 50	+	+	+
EN 43	c.3261dup (p.Phe1088fs)	2/2	3/3	Neg	Neg	+	−	+	+	−
CO 39	c.3261del (p.Phe1088fs)	2/2	2/3	Neg	Pos	+	−	+	−	+
EN 38	c.1135_1139del (p.Arg379X)	2/2	1/3	Neg	Pos	−	+O 38	−	+	−
UR 56	c.1−?_475+? del	3/3	0/3	Neg	Pos	−	+UR 57SEB 59	+	−	+
EN 38	c.3678_3706dup (p.Ala1236fs)	nt		nt	nt	−	−	+	+	−
CO 47	c.2815C>T (p.Gln939X)	nt^c		nt	nt	−	−	+	−	+
Total						7/11	4/11	10/11	8/11	8/11
						(64%)	(36%)	(91%)	(73%)	(73%)

Bethesda A: Proband with two HNPCC-related cancers, Bethesda B: Proband and first degree relative with HNPCC-related cancer, one diagnosed <50 y.
EN=endometrial cancer, CO=colorectal cancer, UR=urothelial cell carcinoma, SEB=sebaceous adenoma, O=ovarian cancer, Neg=negative, Pos=positive, nt=not tested; IHC=immunohistochemistry; MSI=microsatellite instability.
^aThis patient also has an UV c.65G>C (p.Gly22Ala) in MLH1
^bPatients from same family.
^cTumour of patients father showed MSI and no MSH6 expression.

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