Table 2 Characteristics of LS patients with multiple primary cancers
From: Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum
Patient number | Gender | TMB | MSI | Group | Cancer type | Germline gene | hgvs_c | hgvs_p | Tumor location |
|---|---|---|---|---|---|---|---|---|---|
PLS052 | Male | 58.16 | MSI-H | Non-CNS LS-related tumor | Colorectal cancer | MSH2 | c.1753dup | p.S585Ffs*13 | Colon |
PLS052 | Male | 109.93 | MSI-H | Non-CNS LS-related tumor | Colorectal cancer | MSH2 | c.1753dup | p.S585Ffs*13 | Ileocecum |
PLS076 | Female | 0.0 | MSS | Non-CNS LS-unrelated tumor | Lung cancer | PMS2 | c.1997_1998del | p.K666Rfs*4 | Right upper lung |
PLS076 | Female | 0.0 | MSS | Non-CNS LS-unrelated tumor | Lung cancer | PMS2 | c.1997_1998del | p.K666Rfs*4 | Right middle lung |
PLS076 | Female | 4.26 | MSS | Non-CNS LS-unrelated tumor | Lung cancer | PMS2 | c.1997_1998del | p.K666Rfs*4 | Right lower lung |
PLS080 | Male | 4.26 | MSS | Non-CNS LS-unrelated tumor | Lung cancer | PMS2 | c.1 A > G | p.M1? | Lung |
PLS080 | Male | 9.22 | MSS | Non-CNS LS-related tumor | Biliary tract cancer | PMS2 | c.1 A > G | p.M1? | Cholecyst |
PLS087 | Female | 21.28 | MSS | Non-CNS LS-related tumor | Ovarian cancer | MSH2 | c.2038 C > T | p.R680* | Endometrium |
PLS087 | Female | 31.21 | MSI-H | Non-CNS LS-related tumor | Ovarian cancer | MSH2 | c.2038 C > T | p.R680* | Ovary |
PLS103 | Female | 63.12 | MSI-H | Non-CNS LS-related tumor | Colorectal cancer | MSH2 | c.2194_2209dup | p.R737Nfs*18 | Colon |
PLS103 | Female | 48.23 | MSI-H | Non-CNS LS-related tumor | Urothelial cancer | MSH2 | c.2194_2209dup | p.R737Nfs*18 | Bladder |
PLS157 | Female | 46.81 | MSI-H | Non-CNS LS-related tumor | Endometrial cancer | MSH6 | c.3788_3801+8del | . | Uterus |
PLS157 | Female | 2.13 | MSS | Non-CNS LS-related tumor | Endometrial cancer | MSH6 | c.3788_3801+8del | . | Uterus |
PLS163 | Female | 412.06 | MSI-H | Non-CNS LS-related tumor | Colorectal cancer | MSH2 | c.387_388del | p.Q130Vfs*2 | Colon |
PLS163 | Female | 51.06 | MSS | CNS LS tumor | Glioma | MSH2 | c.387_388del | p.Q130Vfs*2 | Brain |
PLS210 | Female | 75.18 | MSI-H | Non-CNS LS-related tumor | Colorectal cancer | MSH2 | c.858del | p.F286Lfs*6 | Colon |
PLS210 | Female | 54.61 | MSI-H | Non-CNS LS-related tumor | Colorectal cancer | MSH2 | c.858del | p.F286Lfs*6 | Colon |
PLS218 | Male | 34.75 | MSI-H | Non-CNS LS-related tumor | Colorectal cancer | MLH1 | c.928dupA | p.T310Nfs*4 | Colorectum |
PLS218 | Male | N/A | MSS | CNS LS tumor | Glioma | MLH1 | c.928dup | p.T310Nfs*4 | Brain |
