Table 2 Mutational status and copy number analysis for the TP53 gene and quantification of the centromeres of chromosome 17 in anal canal tumours according to HPV infection status and p16 expression
HPV negative /p16 negative | FISH chromosome 17/ gene TP53 (%) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Case | Protein Change | Functional Consequence | Exon | 2/2 | 2/1 | 1/1 | 3/2 | 3/1 | 3/3 | 4/2 | 4/1 |
6 | R282W | Non-functional | 8 | 60.5 | 28.0 | 10.0 | 1.5 | – | – | – | – |
7 | R181L | Partially functional | 5 | 52.5 | 43.0 | 4.5 | – | – | – | – | – |
11 | R273H | Non-functional | 8 | 69.0 | 23.0 | 4.5 | 3.5 | – | – | – | – |
16 | G245S | Non-functional | 7 | 67.5 | 28.5 | 2.0 | 2.0 | – | – | – | – |
19 | R273H | Non-functional | 8 | 70.0 | 24.5 | 4.0 | 1.5 | – | – | – | – |
23 | R175P | Non-functional | 5 | 72.0 | 20.0 | 6.0 | 2.0 | – | – | ||
31 | R175H | Non-functional | 5 | 67.0 | 23.0 | 7.0 | 3.0 | – | – | – | – |
34 | G245D | Non-functional | 7 | 64.5 | 20.5 | 10.0 | 3.0 | 2.0 | – | – | – |
49 | R181C | Partially functional | 5 | 48.0 | 44.0 | 8.0 | – | – | – | – | – |
50 | R181H | Partially functional | 5 | 44.5 | 49.5 | 6.0 | – | – | – | – | – |
59 | R213Q | Non-functional | 6 | 64.0 | 26.0 | 6.5 | 3.5 | – | – | – | – |
60 | R248W | Non-functional | 7 | 76.5 | 15.0 | 7.5 | 0.5 | 0.5 | – | – | – |
63 | R175H | Non-functional | 5 | 68.0 | 22.5 | 5.5 | 4.0 | – | – | – | – |
64 | C277F | Non-functional | 8 | 63.4 | 17.0 | 8.0 | 4.2 | 4.2 | 1.6 | 1.6 | – |
70 | R273C | Non-functional | 8 | 63.0 | 19.0 | 7.5 | 7.5 | 2.0 | 1.0 | – | – |
72 | R248Q | Non-functional | 7 | 65.0 | 17.5 | 9.5 | 4.0 | 1.5 | 1.5 | 1.0 | – |
75 | R248Q | Non-functional | 7 | 67.0 | 18.5 | 7.5 | 3.0 | 1.5 | 1.5 | 1.0 | – |
76 | R213Q | Non-functional | 6 | 65.0 | 25.5 | 5.5 | 4.0 | – | – | – | – |
77 | R273C | Non-functional | 8 | 62.7 | 24.3 | 2.7 | 5.5 | 2.7 | 1.6 | 0.5 | – |
HPV positive/p16 borderline | 2/2 | 2/1 | 1/1 | 3/2 | 3/1 | 3/3 | 4/2 | 4/1 | |||
29 | G245S | Non-functional | 7 | 54.0 | 24.0 | 1.5 | 5.0 | 5.5 | 2.5 | 6.0 | 1.5 |
57 | R181H | Partially functional | 5 | 59.0 | 23.0 | 10.5 | 1.5 | 2.0 | 1.0 | 1.5 | 1.5 |