Table 5 Predicted risks according to PREMM1,2 and Barnetson models, fulfilment of clinical criteria, and molecular and clinical characteristics of patients with MLH1/MSH2 mutations
IDPREMM1,2 score (%)Barnetson score (%)Revised BethesdaAMS I/IIMSI statusProtein expressionIndividual and familial clinical features*Gene mutation
MLH1MSH2
403750.3YesNoMSI-HPresenceAbsenceFemale (73), previous intestinal neoplasm (39), brother prostate cancer (71)MSH2
1509862YesNoMSI-HAbsencePresenceFemale (49), 7 synchronous adenomas. No family historyMLH1
6040135YesNoMSI-HPresenceAbsenceMale (28). No family historyMSH2
40332454YesYesMSI-HAbsencePresenceFemale (47), father with CRC (39), sister with CRC (44)MLH1
70472638YesNoMSI-HPresenceAbsenceFemale (59), previous endometrial cancer (58), brother with CRC, sister with gynaecological cancerMSH2
120843618YesYesMSI-HAbsencePresenceFemale (81), previous CRC/endometrial cancer (77), mother with CRC (49), brother with CRC (55), grandmother with endometrial cancer (78)MLH1
120555046YesYesMSI-HPresenceAbsenceFemale (69), previous CRC (53), mother with CRC (81), son with CRC (24), grandfather with gastric cancer (75), uncle with CNS tumour (55), and cousin with endometrial cancer (64)MSH2
130718984YesYesMSI-HPresenceAbsence76 year old female, synchronous adenoma in transversal colon, previous endometrial cancer (54), uncle with CRC (76), mother with endometrial cancer (47), brother with CRC (47), son with CRC (47), uncle with CRC (30)MSH2
  • AMS, Amsterdam criteria; CNS, central nervous system; CRC, colorectal cancer; MSI, microsatellite instability; MSI-H: high degree of microsatellite instability.

  • *Age at diagnosis of the corresponding tumour in brackets.