Table 1.
ID no. | Status | Age at diagnosis | Gleason score | TILs ≥4/HPF | MMR gene mutation | Immunohistochemical staining | MSI | |||
---|---|---|---|---|---|---|---|---|---|---|
MLH1 | PMS2 | MSH2 | MSH6 | |||||||
P32 | Carrier | 56 | 9 (4 + 5) | NA | MSH2 c.(?_-68)_366 + ?del | NA | ||||
P7 | Carrier | 53 | 8 (4 + 4) | y | MSH2 c.560G > T | + | + | − | − | MSI-L |
P14 | FDR | 63 | 9 (5 + 4) | y | MSH2 c.646-?_1276 + ?del | + | + | − | − | MSI-L |
P8 | Carrier | 69 | 9 (4 + 5) | y | MSH2 c.892C > T | + | + | − | − | MSI-L |
P33 | FDR | 77 | NA | NA | MSH2 c. 942 + 3A > T | NA | ||||
P34 | FDR | 62 | NA | NA | MSH2 c. 942 + 3A > T | NA | ||||
P5 | Carrier | 69 | 8 (3 + 5) | NA | MSH2 c. 942 + 3A > T | NA | ||||
P31 | FDR | 56 | 10 (5 + 5) | NA | MSH2 c. 942 + 3A > T | NA | ||||
P10 | Carrier | 76 | 7 (4 + 3) | y | MSH2 c.1786_788delAAT | + | + | − | − | MSI-L |
P20 | FDR | 81 | 10 (5 + 5) | y | MSH2 c.1786_788delAAT | + | + | − | − | MSI-H |
P9 | Carrier | 52 | 8 (4 + 4) | y | MSH2 c.1906G > C | + | + | − | − | MSS |
P30 | Carrier | 60 | NA | NA | MSH2 c.2038C > T | NA | ||||
P12 | Carrier | 57 | 6 (3 + 3) | y | MSH2 c.2347delC | + | + | − | − | MSI-H |
P35 | Carrier | 67 | NA | NA | MLH1 c. 350C > T | NA | ||||
P11 | Carrie | 63 | 7 (4 + 3) | n | MLH1 c.588 + 5G > A | + | + | + | + | MSS |
P22 | FDR | 56 | 7 (3 + 4) | y | MLH1 c.1537_1547delInsC | − | − | + | + | MSS |
P2 | Carrier | 60 | 8 (4 + 4) | n | MLH1 c.1667 + 2delTAAATCAinsATTT | + | + | + | + | MSS |
P13 | FDR | 63 | 9 (4 + 5) | y | MLH1 c.1667 + 2delTAAATCAinsATTT | − | − | + | + | MSI-L |
P18 | FDR | 63 | 7 (3 + 4) | y | MLH1 c.1667 + 2delTAAATCAinsATTT | + | + | + | + | MSS |
P6 | FDR | 80 | 7 (3 + 4) | n | MLH1 c.1732-2A > T | + | + | + | + | MSS |
P1 | Carrier | 72 | NA | NA | MLH1 c.1732-2A > T | NA | ||||
P16 | Carrier | 74 | 10 (5 + 5) | n | MLH1 c.1852_54delAAG | + | + | + | + | MSS |
P37 | Carrier | 58 | NA | NA | MSH6 C.1444C > T | NA | ||||
P3 | Carrier | 58 | 8 (4 + 4) | y | MSH6 c.1483C > T | + | + | − | − | MSI-L |
P15 | Carrier | 78 | 6 (3 + 3) | y | MSH6 c.3647-1G > A | + | + | + | − | MSS |
P38 | FDR | 81 | NA | NA | MSH6 c. 3609_3612delTGCA | NA | ||||
P36 | FDR | 53 | NA | NA | MSH6 c.3992 + 1 T > C | NA | ||||
P17 | FDR | 57 | 7 (3 + 4) | NA | MSH6 c.3992 + 1 T > C | NA |
Abbreviations: FDR first-degree relatives, HPF high-power field, MMR mismatch repair, MSI microsatellite instability high/low, MSS microsatellite stability, n no, TIL tumour-infiltrating lymphocytes, y yes, NA Not available