Cases of discordance between clinical criteria and the presence of MSH2 or MLH1 mutations
| Proband No | Clinical description | Criteria that did not identify family | Reason | |||
| DF2579 | Proband with colon (37) and stomach (49); mother with ovarian (48); maternal 1st cousin with colon (40); first cousin's children with pancreas (20s) and colon (30s) | Ams | 3 colon cancers not in first degree relatives; extracolonic tumours not counted | |||
| DF1851 | Proband with 2 breast primaries (37,44); proband's mother with ovarian, colon, breast (42,49,64); maternal aunt with breast (60s); maternal uncle with colon (42); maternal grandmother with endometrial 46 | Ams | Absence of 3 colon cancers (Ams); proband does not have colorectal neoplasia (Beth) | |||
| Beth | ||||||
| DF268 | Proband with adenomas (36); brother with colon (28); paternal aunt with colon (51); paternal grandmother with ovarian (40) | Ams | Absence of 3 colon cancers (Ams); 3 relatives with cancer not connected by 1st degree (Mod Ams, Ams II) | |||
| Mod Ams | ||||||
| Ams II | ||||||
| DF1754 | Proband with colon (44); mother with TCC of renal pelvis (69) and ureter and stomach (70); maternal aunt with ovarian (60), cholangiocarcinoma (60); maternal grandfather with stomach (41) | Ams | Lack of 3 colon cancers (Ams); lack of 2 colon cancers (Mod Ams); extracolonic tumours different from those included in criteria (Ams II) | |||
| Mod Ams | ||||||
| Ams II | ||||||
| DF951 | Proband with 2 colon primaries (38,51) and endometrial (40); 2 sisters and mother with endometrial | Ams | Lack of 3 colon cancers (Ams); lack of 2 colon cancers (Mod Ams) | |||
| Mod Ams | ||||||
| DF1251 | Proband with 5 colon primaries (26); mother with duodenal and jejunal primaries (46); sister with adenomas (36,38) | Ams | Lack of 3 subjects with colon cancer (Ams); adenomas not counted (Ams, Mod Ams, Ams II) | |||
| Mod Ams | ||||||
| Ams II | ||||||
| DF357 | Proband with 2 colon primaries (33,34) | Ams | Requirement for multiple affected subjects, synchronous tumours not counted (Ams, Mod Ams, and Ams II) | |||
| Mod Ams | ||||||
| Amst II | ||||||
Ams = Amsterdam; Mod Ams = Modified Amsterdam; Ams II = Amsterdam II; Beth = Bethesda.