Table 1 Summary of patients with GPV/PGPV of MMR gene indicated by CGP testing
Case | Sex | Age | CGP test | Tumor/ Normal | TMB | MSI | MMR gene | VAF | Germline testing | History of LS-associated cancer | Cancer type | LS-associated | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Personal | Familial | ||||||||||||
1 | M | 65 | F1 | T | 13.28 | MSS | PMS2 | 0.4648 | PMS2 (NM_000535 :c.241 G > T p.E81*) | No | Yes | lung cancer | unassociated |
2 | M | 75 | F1 | T | 4.83 | MSS | MSH6 | 0.5298 | Under investigation | No | Yes | colon cancer | associated |
3 | F | 9 | F1 | T | 191.65 | MSS | PMS2 | 0.5069 | PMS2 (NM_000535 :c.241 G > T p.E81*) + Exon14 deficient (CMMRD) | No | Yes | glioblastoma | associated |
4 | F | 45 | F1 | T | 23.96 | MSI-H | MLH1 | 0.6391 | MLH1 (NM_000249 : splice site 1731 G > A) | No | Yes | uterine cancer, intrahepatic cholangiocarcinoma | associated |
5 | F | 58 | F1 | T | 115.86 | MSI-H | PMS2 | 0.4699 | PMS2 (NM_000535 : splice site 1144 + 1 G > A) | No | Yes | uterine cancer | associated |
6 | M | 74 | NCC | P | 0 | MSI-H | MSH2 | 0.494 | MSH2 c.211+1 G > C | Yes | Yes | pancreatic cancer | associated |
7 | M | 72 | F1 | T | 48.27 | MSI-H | MSH2 | 0.465 | MSH2 c.1255delC | No | Yes | small intestine cancer | associated |
8 | M | 40 | F1 | T | 33 | MSI-H | MSH2 | 0.61 | MSH2 c.211+1 G > C | No | Yes | colon cancer | associated |
9 | M | 56 | NCC | P | 106 | MSI-H | MSH2 | 0.47 | MSH2 c.1216 C > T | No | Yes | colon cancer | associated |
10 | M | 27 | F1 | T | 177.78 | MSI-H | MSH6 | 0.4872 | Negative | No | Yes | colon cancer | associated |
11 | F | 58 | F1 | T | 3.62 | MSS | PMS2 | 0.2405 | Negative | No | Yes | uterine cancer | associated |
12 | F | 60 | F1 | T | 42.87 | MSI-H | MSH6 | 0.3108 | Negative | No | Yes | ovarian cancer | associated |
13 | M | 70 | F1 | T | 28.96 | MSI-H | MSH2 | 0.7 | Negative | No | Yes | prostate cancer | associated |
14 | M | 36 | F1 | T | 113.48 | MSS | PMS2 | 0.7108 | Declined | No | Yes | anaplastic astrocytoma | associated |
15 | F | 45 | F1 | T | 11.35 | MSI-H | PMS2 | 0.4878 | Declined | No | Yes | cervical cancer | unassociated |
16 | M | 81 | F1 | T | 7.24 | MSS | PMS2 | 0.4636 | Declined | No | No | lung cancer | unassociated |
17 | F | 76 | F1 | T | 5.04 | unknown | MLH1 | NA | Declined | No | Yes | myxofibrosarcoma | unassociated |
18 | F | 64 | F1LQ | T | 1.26 | MSS | MLH1 | 0.4753 | Declined | No | Yes | intrahepatic cholangiocarcinoma | associated |
19 | M | 59 | F1 | T | 33.79 | MSI-H | MLH1 | 0.5997 | Declined | No | Yes | small intestine cancer | associated |
20 | M | 64 | F1 | T | 35 | MSI-H | MLH1 | 0.96 | Declined | No | Yes | lung cancer | unassociated |
21 | M | 74 | F1 | T | 25.34 | MSI-H | MSH2 | NA | Dead | No | No | prostate cancer | associated |
