Table 1 Clinical and Molecular Data of Patients with Absence of MSH2
Patient ID | Group | Age | Gender | Tumor site | Specimen type | MSH6 positive % | Staining intensity (1-3) | MSI | Germline pathogenic or likely pathogenic MSH2 or MSH6 mutation(s) | Somatic pathogenic or likely pathogenic MSH2 or MSH6 mutation(s) |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 1 | 61 | M | T | B | 29% | 3 | MSI-H | Negative | MSH2 (c.2038C>T, p.R680X) and loss of heterozygosity |
2 | 1 | 56 | M | R | B | 18% | 3 | IT | MSH2 (c.1510+2T>C) | Â |
3 | 1 | 59 | M | R | B | 44% | 3 | MSI-H | MSH2 (c.942+3A>T) | Â |
4 | 1 | 40 | M | RS | R | 30% | 2 | MSI-H | Negative | MSH2 (c.1865C>T, p.P622L) and MSH2 (c.1662-2A>G) |
a5 | 1 | 50 | F | R | B | 28% | 2 | IT | MSH2 (exon 13-14 deletion) | Â |
6 | 1 | 38 | F | R | B | 27% | 2 | IT | MSH2 (exon 8 deletion) | Â |
7 | 1 | 39 | M | R | B | 38% | 2 | MSI-H | MSH2 (c.942+3A>T) | Â |
8 | 1 | 52 | F | C | R | 24% | 2 | MSI-H | MSH2 (exon 1-6 deletion) | Â |
9 | 1 | 48 | M | C | R | 14% | 2 | MSI-H | MSH2 (c.942+3A>T) | Â |
10 | 1 | 50 | M | C | R | 14% | 2 | MSI-H | MSH2 (c.942+3A>T) | Â |
11 | 1 | 61 | F | C | R | 30% | 2 | MSI-H | MSH2 (exon 1-6 deletion) | Â |
12 | 2 | 52 | M | D | R | 9% | 1 | MSI-H | MSH2 (c.362delA, p.Y121Lfs*53) | Â |
13 | 2 | 51 | F | Left colon, NOS | R | 19% | 1 | IT | MSH2 (c.1786_1788delAAT, p.N596del) | Â |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | MSH2 (c.1204C>T, p.Q402X) |
14 | 2 | 70 | M | A | R | 6% | 1 | MSI-H | Negative | and MSH2 (c.1759+1G>A) |
15 | 2 | 20 | M | C | R | 7% | 1 | MSI-H | MSH2 (c.1749dupT, p.I584Yfs*14 | Â |
16 | 2 | 51 | M | C | R | 7% | 1 | MSI-H | MSH2 (c.2060T>G, p.L687R) | Â |
17 | 2 | 40 | F | T (liver mets) | B | 6% | 1 | IT | MSH2 (c.1012G>C, p.G338R) | Â |
18 | 2 | 37 | M | H | R | 7% | 1 | MSI-H | MSH2 (c.1832T>A, p.V611E) | Â |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | MSH2 (exon 1-7 deletion and | Â |
19 | 2 | 53 | F | I | B | 8% | 1 | MSI-H | entire EPCAM gene) | Â |
20 | 3 | 47 | M | D | R | NA | 0 | IT | MSH2 (exon 1-6 deletion) | Â |
21 | 3 | 61 | F | S | R | NA | 0 | MSI-H | MSH2 (c.942+3A>T) | Â |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | MSH2 (c.790C>T, p.Q264X) |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | and MSH6 (c.3261dupC, |
22 | 3 | 65 | M | RS | R | NA | 0 | MSI-H | Negative | p.F1088Lfs*5) |
23 | 3 | 48 | F | R (liver mets) | B | NA | 0 | MSI-H | MSH2 (exon 3-6 deletion) | Â |
24 | 3 | 42 | M | R | R | NA | 0 | MSI-H | MSH2 (c.1386+1G>T) | Â |
25 | 3 | 42 | M | R | B | NA | 0 | MSI-H | MSH2 (exon 1-6 deletion) | Â |
26 | 3 | 44 | F | R | B | NA | 0 | IT | MSH2 (exon 1-6 deletion) | Â |
27 | 3 | 74 | F | C | R | NA | 0 | MSI-H | Negative | MSH2 (homozygous exon 1-8 deletion) |
28 | 3 | 49 | M | A | R | NA | 0 | MSI-H | MSH2 (exon 3-16 deletion) | Â |
| Â | Â | Â | Â | Â | Â | NA | Â | Â | Â | Â |
29 | 3 | 62 | M | C | R | NA | 0 | MSI-H | MSH2 (c.229_230del, p.S77Cfs*4) | Â |
30 | 3 | 47 | F | R (liver mets) | R | NA | 0 | MSI-H | MSH2 (exon 3-6 deletion) | Â |
31 | 3 | 75 | M | R | R | NA | 0 | IT | Negative | MSH2 (c.1363del, p.E455Kfs*4) and MSH2 (c.2038C>T, p.R680X) |
32 | 3 | 62 | F | T | R | NA | 0 | MSI-H | MSH2 (exon 8 deletion) | Â |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | MSH2 (c.1226_1227del, | Â |
33 | 3 | 44 | M | S | R | NA | 0 | Â | MSI-H p.Q409Rfs*7) | Â |
