Table 1 Fifteen breast cancer patients with pathogenic germline variants in MMR genes identified from 8085 breast cancer patients.
Case ID | Germline | Age (y) | Personal history | Family history | Histology | Tumor size | Lymph node | ER status | PR status | HER2 status |
|---|---|---|---|---|---|---|---|---|---|---|
P12 | PMS2:p.R134X | 80 | – | – | IDC | 1.4*1.2 | (−) | (−) | (−) | (−) |
P14 | PMS2:p.E225X | 43 | Lymphoma, 55 y | 1-1 breast cancer, 42 y; 2-1 ovarian cancer, 27 y; 2-1 gastric cancer, 78 y | IDC | 2.5*1.8 | (+) | (+) | (+) | (−) |
P20 | PMS2:p.R315X | 38 | Cervical cancer, 39 y | – | IDC | 2.1*2.0 | (+) | (−) | (+) | (−) |
P25 | PMS2:p.L351X | 45 | – | 1-1 gastric cancer, 45 y; 2-1 gastric cancer, 50 y; 2-1 esophagus cancer; 3-1 esophagus cancer | IDC | 5.4*3.8 | (+) | (+) | (+) | (−) |
P26 | PMS2:p.V754fs | 34 | – | – | IDC | 4.6*1.3 | (−) | (−) | (−) | (+) |
P27 | PMS2:p.R151fs | 61 | – | – | IDC | 2.2*2.0 | (−) | (+) | (+) | (−) |
P5 | MSH6:p.R495X | 62 | – | 2-1 pancreatic cancer, 40 y; 2-1 liver cancer, 50 y | IDC | 1.1*1.0 | (−) | (+) | (+) | (−) |
P8 | MSH6:p.Y994X | 50 | – | 1-1 breast cancer, 40 y | Invasive papillary | 1.7*1.5 | (+) | (+) | (+) | (−) |
P22 | MSH6:p.R922X | 57 | – | – | IDC | 1.7*1.6 | (+) | (−) | (−) | (+) |
P23 | MSH6:p.T716fs | 67 | – | – | IDC | 1.4*1.4 | (−) | (+) | (−) | (−) |
P31 | MSH6:p.T1085fs | 53 | Endometria cancer, 52 y | 1-1 gastric cancer, 60 y; 2-1 gastric cancer, 71 y; 2-1 breast cancer, 50 y | Medullary | 2.2*1.5 | (−) | (−) | (−) | (−) |
P2 | MSH2:p.Q4X | 54 | – | 2-1 colorectal cancer, 64 y | IDC | 2.4*1.6 | (+) | (+) | (+) | (−) |
P19 | MSH2:p.R877fs | 64 | – | 1-1 brain cancer | IDC | 1.6*1.7 | (−) | NA | NA | NA |
P21 | MSH2:p.Q314fs | 75 | Rectal cancer, 77 y | – | Invasive papillary | 2.5*2.2 | (−) | (+) | (+) | (−) |
P15 | MLH1:p.R659X | 46 | Rectal cancer, 42 y | 1-1 rectal cancer, 45 y; gastric cancer, 42 y; 1-1 lung cancer, 47 y | DCIS | 2.0*1.8 | (−) | (+) | (+) | (−) |
