Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain

Table 4 Molecular alterations of tumors from persons carrying mutations of hMSH6 gene

Family/member	Tumor type	MSI status	Immunohistochemistry			hMSH6 mutation	Other MMR gene mutation
			MLH1	MSH2	MSH6
3/270	CRC	MSI-H	P	P	P	R1242L	V716M (hMLH1)
11/310	CRC	MSI-H	P	P	P	L773L	NO
68/675	CRC	MSS	P	P	P	H388H and L758L	NO
73/526	3 CRCs	MSI-H	P	P	N	V878A	NO
81/757	CRC	MSS	P	P	P	c.3439?6 C > T	K618A (hMLH1)
94/854	UTERO	MSI-H	P	P	N	V878A	K618A (hMLH1)
100/940	CRC	MSS	P	P	N	Q236X	NO
121/1041	CRC	MSS	ND	ND	ND	c.3439?6 C > T	NO
138/1165	2 CRCs	MSI-H	P	P	P	C559C	P350P (hMLH1)

CRC, colorectal cancer; MSI-H, high microsatellite instability; MSS, negative microsatellite instability; P, positive for MMR protein; N, negative for MMR protein; ND, not done MMR expression.