Table 1

Features of the families studied. Six out of 14 families fulfilled the traditional Amsterdam criteria, eight patients represent familial colorectal cancer. All except three kindreds displayed microsatellite stable tumours; in F33, F65, and F74 the MSI/MSS status was unknown (tumour sample not available). Sites of cancer and age at diagnosis (in parentheses) in proband and first degree relatives are presented

HNPCC family Criteria for diagnosis MSI/MSS status Sites of cancers and age of diagnosis in proband and first degree relatives
F 31Amsterdam criteriaMSSCRC (38, 39, 48, 62) small intestine (39)
F 33Familial CRCNot knownCRC (34, 40, 44, 50), cervix (40), liver (71)
F 42Familial CRCMSSCRC (61, 67), stomach (56), breast (69)
F 44Familial CRCMSSCRC (33, 53)
F 46Familial CRCMSSCRC (54), cervix (?)
F 56Amsterdam criteriaMSSCRC (24, 43, 51, 52, 76)
F 65Amsterdam criteriaNot knownCRC (32, 41, 54), liver (?)
F 68Familial CRCMSSCRC (66, 68)
F 70Familial CRCMSSCRC (?)
F 74Amsterdam criteriaNot knownCRC (64, 67)
F 75Familial CRCMSSCRC (?)
F 76Familial CRCMSSCRC (41, 45)
F 80Amsterdam criteriaMSSCRC (47, 67), melanoma (70)
F 84Amsterdam criteriaMSSCRC (43, 56, 59), breast (44)
  • CRC = colorectal cancer.