Family code | HNPCC criteria | Tumor localization (age at diagnosis) | Gene | Deleted or duplicated exons (systematic nomenclature) | 5' deletion | MSI | IHC | LOH |
---|---|---|---|---|---|---|---|---|
SK-14 | AC-I | ascendens + sigmoid colon (27) | MSH2 | del1-7 (c.1-?_1276+?del) | 15 kb | MSI-H | * | partial |
SK-20 | AC-II | sigmoid colon (36) | MSH2 | dup5-6 (c.793-?_1076+?dup) | n.a. | MSI-H | MLH1+, MSH2- | partial |
SK-21 | BG | cecum (27) | MSH2 | del1-3 (c.1-?_645+?del) | 15 kb and 27 kb | MSI-H | MLH1+, MSH2- | none |
SK-22 | AC-I | sigmoid colon (36) | MLH1 | del5-6 (c.381-?_545+?del) | n.a. | MSI-H | MLH1-, MSH2+ | partial |
SK-23 | AC-I | cecum + ascendens colon (53) | MSH2 | del1 (c.1-?_211+?del) | - | MSI-L | * | none |
SK-25 | AC-I | cecum (42) | MSH2 | del1-7 (c.1-?_1276+?del) | 15 kb | # | # | Â |
SK-28 | BG | ascendens colon + rectum (48) | MSH2 | del1-3 (c.1-?_645+?del) | n.d. | MSI-H | * | n.i. |