Likely pathogenic germline mutations identified in this study
| Patient ID | Age, years | Gender | Gene symbol | Nucleotide change | Allele count in this study | Allele frequency in the general population* | OR | 95% CI | Annotation |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 73 | Male | EPCAM | c.77-2A>G | 1 | 4.09712E-06 | 63.48 | 3.970–1015 | LP |
| 9 | 52 | Male | BRIP1 | c.3072delG | 2 | 8.12321E-06 | 64.05 | 9.020–454.8 | LP |
| 86 | 50 | Female | |||||||
| 22 | 47 | Male | APC | c.1743+1G>A | 1 | 4.06484E-06 | 63.98 | 4.001–1023 | LP |
| 22 | 47 | Male | MSH6 | c.3254dupC | 1 | 5.71447E-05 | 4.551 | 0.5983–34.62 | LP |
| 41 | 50 | Female | TP53 | c.G713A | 1 | 8.12183E-06 | . | 2.903–353.2 | LP |
| 41 | 50 | Female | APC | c.3921dupA | 1 | NA | NA | NA | LP |
| 59 | 50 | Male | MSH6 | c.2740dupA | 1 | NA | NA | NA | LP |
| 80 | 39 | NA | PMS2 | c.1145-1G>A | 1 | NA | NA | NA | LP |
| 81 | NA | NA | MSH2 | c.C2271G | 1 | NA | NA | NA | LP |
| 81 | NA | NA | AXIN2 | c.1212_1215del | 1 | 5.49541E-06 | 47.33 | 2.960–756.8 | LP |
| 87 | 43 | Female | MLH1 | c.A250G | 1 | NA | NA | NA | LP |
| 88 | 55 | Male | MSH6 | c.2554_2555del | 1 | NA | NA | NA | LP |
| 89 | 54 | Female | MSH2 | c.943-2A>G | 1 | NA | NA | NA | LP |
| 90 | 60 | Female | RAD50 | c.887delT | 1 | NA | NA | NA | LP |
| 91 | 59 | Male | ATM | c.1713delT | 1 | NA | NA | NA | LP |
| 92 | 71 | Female | RAD50 | c.2976_2977del | 1 | 4.06881E-06 | 63.92 | 3.997–1022 | LP |
| 93 | 45 | Male | MLH1 | c.G194A | 1 | NA | NA | NA | LP |
| 94 | 55 | Female | RAD50 | c.C2476T | 1 | 4.0659E-06 | 63.97 | 4.000–1023 | LP |
| 95 | 43 | Female | MSH6 | c.1866dupA | 1 | NA | NA | NA | LP |
| 96 | 55 | Male | MLH1 | c.380+1G>T | 1 | NA | NA | NA | LP |
| 97 | NA | Male | NBN | c.1651delA | 1 | NA | NA | NA | LP |
| 97 | NA | Male | NTRK1 | c.477_478insGC | 2 | NA | NA | NA | LP |
| 98 | NA | Male | |||||||
| 97 | NA | Male | NTRK1 | c.474_475del | 2 | NA | NA | NA | LP |
| 98 | NA | Male | |||||||
| 98 | NA | Male | MSH6 | c.G3725A | 1 | 4.06583E-06 | 63.97 | 4.000–1023 | LP |
| 98 | NA | Male | ATM | c.7411_7412insATTT | 1 | NA | NA | NA | LP |
| 99 | 47 | Male | ATM | c.T3900G | 1 | NA | NA | NA | LP |
| 100 | 61 | Male | MUTYH | c.C325T | 1 | 3.65473E-05 | 7.116 | 0.9013–56.18 | LP |
| 101 | 48 | Male | BLM | c.C3678A | 1 | NA | NA | NA | LP |
| 102 | 45 | Female | MLH1 | c.345_349del | 1 | NA | NA | NA | LP |
| 103 | 79 | Female | SDHB | c.540+1G>A | 1 | NA | NA | NA | LP |
| 104 | 49 | Male | BLM | c.1440dupT | 1 | NA | NA | NA | LP |
| 105 | 65 | Female | MLH1 | c.1612delT | 1 | NA | NA | NA | LP |
| 105 | 65 | Female | MLH1 | c.1616_1619del | 1 | NA | NA | NA | LP |
| 106 | 54 | Male | BLM | c.371_372del | 1 | NA | NA | NA | LP |
| 107 | 63 | Female | BLM | c.3354delC | 1 | NA | NA | NA | LP |
| 108 | 44 | Male | BRIP1 | c.C1471T | 1 | NA | NA | NA | LP |
| 109 | 48 | Female | MLH1 | c.G794C | 1 | NA | NA | NA | LP |
| 110 | 66 | Female | ATM | c.7366_7367del | 1 | NA | NA | NA | LP |
| 111 | 68 | Male | MSH6 | c.1698delA | 1 | NA | NA | NA | LP |
| 112 | 44 | Male | MSH6 | c.994delG | 1 | NA | NA | NA | LP |
| 113 | 46 | Male | ATM | c.3609delT | 1 | NA | NA | NA | LP |
| 114 | 75 | Male | CHEK2 | c.817_818del | 1 | 4.07558E-06 | 63.81 | 3.991–1020 | LP |
| 115 | 49 | Female | PALB2 | c.1400delG | 1 | NA | NA | NA | LP |
| 116 | 63 | Male | NTRK1 | c.1354+1G>T | 3 | 1.62504E-05 | 48.04 | 10.75–214.7 | LP |
| 117 | 45 | Female | |||||||
| 118 | NA | Male | |||||||
| 119 | 63 | Male | TP53 | c.C817T | 1 | 1.22115E-05 | 21.3 | 2.215–204.8 | LP |
| 120 | 64 | Male | BLM | c.G2926T | 1 | 4.06161E-06 | 64.03 | 4.004–1024 | LP |
| 121 | 43 | Female | CHEK2 | c.622delG | 1 | 4.47579E-06 | 58.11 | 3.634–929.2 | LP |
| 122 | 51 | Male | PMS2 | c.1144+1G>A | 1 | 8.13107E-06 | 31.99 | 2.900–352.8 | LP |
| 123 | 43 | Female | MSH2 | c.1510+1G>A | 1 | 4.06303E-06 | 64.01 | 4.003–1024 | LP |
| 124 | 59 | Female | MLH1 | c.1990_1997del | 1 | NA | NA | NA | LP |
| 125 | 26 | Female | APC | c.1908dupT | 1 | NA | NA | NA | LP |
| 126 | 54 | Female | MSH2 | c.G2021A | 1 | NA | NA | NA | LP |
| 127 | 62 | Male | PMS2 | c.803+1G>A | 1 | NA | NA | NA | LP |
| 128 | 71 | Male | NF1 | c.3198-1G>T | 1 | NA | NA | NA | LP |
| 129 | 47 | Female | RAD51D | c.271_272insTA | 1 | 5.68574E-05 | 4.574 | 0.6013–34.79 | LP |
| 130 | 29 | Female | MSH2 | c.838_839insTG | 1 | NA | NA | NA | LP |
| 131 | 63 | Male | EXT2 | c.C174G | 1 | NA | NA | NA | LP |
| 132 | 43 | Female | MSH2 | c.175delA | 1 | NA | NA | NA | LP |
| 133 | 45 | Male | MSH2 | c.G2074A | 1 | NA | NA | NA | LP |
| 134 | 41 | Male | MLH1 | c.G2041A | 1 | NA | NA | NA | LP |
| 135 | 55 | Male | RAD51D | c.C898T | 1 | 0.000028437 | 9.145 | 1.125–74.35 | LP |
| 136 | 48 | Male | MSH2 | c.1602dupT | 1 | NA | NA | NA | LP |
| 137 | 52 | Female | TP53 | c.T737C | 1 | NA | NA | NA | LP |
| 138 | 45 | Female | RAD51D | c.627dup | 1 | NA | NA | NA | LP |
| 139 | 42 | Female | MSH2 | c.T1764A | 1 | NA | NA | NA | LP |
| 140 | 42 | Male | SDHA | c.1064+2T>C | 1 | NA | NA | NA | LP |
| 141 | 55 | male | RAD50 | c.134delT | 1 | NA | NA | NA | LP |
| 142 | 43 | Male | CHEK2 | c.1375+2T>A | 1 | NA | NA | NA | LP |
| 143 | 55 | Female | ATM | c.6129dupC | 1 | NA | NA | NA | LP |
| 144 | 35 | Male | SDHA | c.A1G | 1 | 8.56663E-06 | 30.36 | 1.899–485.5 | LP |
| 145 | 39 | Male | MLH1 | c.16delG | 1 | NA | NA | NA | LP |
| 146 | NA | NA | MRE11A | c.929_930insTGATTAGCTAGAA CAATATCCTCCATGAAAAACTGC CGCACTGTGTGAAGAGGAATTT TATGCATATTCATCTTCACACAGT GCGGCAGTTTTTCATGGA | 1 | NA | NA | NA | LP |
| 147 | 44 | Female | MSH2 | c.646-2A>G | 1 | NA | NA | NA | LP |
| Overall | 1.44636E-05 | 20.68 | 12.89–33.18 |
*Data from gnomAD.