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

Table 2 hMSH6 mutations in Spanish HNPCC families

Family	Clinicalcriteria	Dx agedindex patient (y)	No. of tumorsin the family	Exon/intron	Nucleotidechange	Amino acidchange	Predictedconsequence	Nfdhtdata base
3	Bethesda	42	1E, 1G, 1M, 1H, 1F, and 1A	Ex. 8	c.3725 G > T	R1242L	Inconclusive	No
11	HNPCC-like	58	1G, 2C, and 1B	Ex. 4	c.2319 C > T	L773L	Inconclusive	No
68	Bethesda	29	1L, and 1C	Ex. 4	c.1164 C > T	H388H	Inconclusive	No
				Ex. 4	c.2272 C>T	L758L
81	HNPCC-like	50	4C	Int. 5	c.3439?6 C > T	NA	Inconclusive	No
94	Amsterdam II	45	3 P, 2E, 1G, and 3C	Ex. 4	c.2633 T > C	V878A	Pathogenic	Yes
100	Amsterdam II	54	4C, 1P, and 3G	Ex. 4	c.706 C > T	Q236X	Truncation	No
73	Amsterdam	29	2SM, 1G, 3C, and 1L	Ex. 4	c.2633 T > C	V878A	Pathogenic	Yes
121	HNPCC-like	58	3C, 1G, and 1B	Int. 5	c.3439?6 C > T	NA	Inconclusive	No
138	Bethesda	43	2C and 1 ureter in the same patient	Ex. 4	c.1677 C > T	C559C	Inconclusive	No

E, endometrial; G, glioma; M, meningioma; H, hemangioma; F, fibrosarcoma; A, adenoma; G, gastric; C, colon; B, breast; L, larynx; P, prostate; B, brain; SM, small intestine; y, years.