Table 2.

Families listed according to fulfilment of clinical criteria for suspected hereditary non-polyposis colorectal cancer (HNPCC)

Patient No	Family No	Analysed for MLH1 or MSH2 mutation	Mutation detected	Multiple HNPCC related cancers in at least one family member	No of right sided CRC in the family	MSI (our selected markers)	MSI (NCI reference panel)	Proband age at time of CRC diagnosis (y)	Categorised as HNPCC*
Category 1—Amsterdam criteria I
1	1	Yes	MLH1	Yes	5	MSI-H	MSI-H	39, 52	+
2	1	Yes	MLH1	Yes	5	MSI-H	MSI-H	28	+
3	2	Yes	MLH1	Yes	3	MSI-H	MSI-H	49	+
4	3	Yes	MSH2	Yes	5	MSI-H	MSI-H	35, 72, 75	+
5	4	Yes	MSH2	Yes	2	MSI-H	MSI-L	65 + En55	+
6	5	Yes	No	No	0	†	na	38	+
7	6	Yes	No	No	0	MSI-H	MS-S	60	+
8	7	Yes	No	No	0	MSI-H	MS-S	42	+
9	8	Yes	No	No	1	MS-S	MS-S	57	+
10	9	Yes	No	No	0	MS-S	MS-S	44	+
11	10	Yes	No	No	1	MS-S	MSI-H	45	+
Category 2—Amsterdam criteria II
12	11	Yes	MLH1	Yes	3	MSI-H		38, 54	+
13	12	Yes	MSH2	Yes	1	MSI-H		43	+
14	13	Yes	No	No	0	MSI-L		70	+
15	14	Yes	No	No	0	MS-S		31	+
16	4	Yes	MSH2	Yes	2	MSI-H		36, 58	+
17	15	Yes	No	No	0	MS-S		49	+
Category 3—Amsterdam criteria I or II on extended pedigree
18	16	Yes	No	Yes	2	MS-S		46, 46, 46	+
Category 4—Amsterdam criteria including other HNPCC related cancer
19	17	Yes	No	No	2	MS-S		76
20	18	Yes	No	No	0	MS-S		82
21	19	Yes	No	No	0	MS-S		47
22	20	Yes	No	No	1	MSI-H		70
23	21	Yes	No	No	0	†		81
24	22	Yes	No	No	0	†		34
25	23	Yes	No	No	1	†		72
26	24	Yes	No	No	0	MS-S		75
27	25	Yes	No	Yes	0	MS-S		39, 62
28	26	Yes	No	Yes	0	MSI-L		49,52
29	26	No	na	Yes	0	MS-S		81
30	27	No	na	Yes	0	MS-S		73
Category 5—Amsterdam criteria I (youngest family member with CRC 50–55 y at the time of diagnosis)
31	28	Yes	No	Yes	0	MS-S		52, 52
32	29	Yes	No	No	0	MS-S		52
33	30	Yes	No	No	0	MS-S		56
34	31	Yes	No	No	1	MS-S		81
35	32	Yes	No	No	1	†		81
36	33	No	na	No	0	MS-S		58
Category 6—proband at age 40 y or younger with at least one CRC among family members
37	34	Yes	MSH2	No	0	MSI-H		26	+
38	35	Yes	No	No	0	†		34
39	36	Yes	No	No	0	MS-S		19
40	37	Yes	No	No	0	MS-S		40
41	38	Yes	No	No	0	MS-S		34
Category 7—both proband and one first degree relative with CRC <55 y
42	39	Yes	MSH2	No	1	MSI-H		52	+
43	40	Yes	No	No	1	MS-S		53
44	41	Yes	No	No	0	MS-S		49
45	42	No	na	No	1	MS-S		49

†Amplification of tumour DNA not possible.

*Families from categories 1–3 meet the International Collaborative Group for HNPCC clinical criteria for HNPCC, and we categorised these families as HNPCC. Families from categories 4–7 were categorised as HNPCC only if hMLH1/hMSH2 mutations were detected.

En, endometrial cancer; na, not analysed; MSI, microsatellite instability; MSI-H, high microsatellite instability; MSI-L, low microsatellite instability; MS-S, stable microsatellites; CRC, colorectal cancer.