Table 2 Mutation details of DNA damage repair gene in 30 patients of our cohort
Patient ID | Sex | Age | Mut Level | Amino acid change | Function | Detection Panel |
|---|---|---|---|---|---|---|
Patient 26 | M | 55 | ATM germline | p.R1882* | Nonsense | 417-gene |
Patient 87 | M | 61 | ATM germline | p.C1899* | Nonsense | 417-gene |
Patient 100 | F | 71 | ATM germline | p.K468Efs*18 | Frameshift | 150-gene |
Patient 135 | F | 71 | ATM germline | p.Q441Afs*45 | Frameshift | 417-gene |
Patient 195 | M | 55 | ATM somatic | p.K2811Sfs*46 | Frameshift | 417-gene |
Patient 140 | F | 63 | ATM somatic | R1898* | Nonsense | 417-gene |
Patient 119 | F | 69 | ATM somatic | p.G509*, p.L1651* | Nonsense | 150-gene |
Patient 42 | M | 63 | ATM somatic | c.2921 + 1G > A | Intron mutation | 381-gene |
Patient 25 | F | 54 | BLM germline | p.L258Efs*7 | Frameshift | 417-gene |
Patient 186 | F | 45 | BRCA1 somatic | p.R1443* | Nonsense | 417-gene |
Patient 11 | F | 67 | BRCA2 somatic | p.T3033Nfs*11, p.K437Ifs*22 | Frameshift | 417-gene |
Patient 130 | F | 34 | BRCA2 somatic | p.R3128* | Nonsense | 150-gene |
Patient 143 | M | 63 | BRCA2 somatic | D2723N | Missense | 381-gene |
Patient 162 | M | 55 | BRCA2 somatic | p.R2494* | Nonsense | 150-gene |
Patient 130 | F | 34 | BRCA2 germline | p.N2137Kfs*29 | Frameshift | 150-gene |
Patient 193 | M | 55 | BRCA2 germline | c.3847_3848del | Indel | 417-gene |
Patient 124 | F | 49 | BRCA2 germline | Y1894* | Nonsense | 381-gene |
Patient 180 | F | 73 | BRCA2 germline | p.Q1073Rfs*4 | Frameshift | 417-gene |
Patient194 | M | 34 | BRCA2 germline | p.V1283Kfs*2 | Frameshift | 417-gene |
Patient 63 | F | 68 | FANCA somatic | – | CNV-amplification | 417-gene |
Patient 86 | F | 79 | FANCE somatic | – | CNV-loss | 417-gene |
Patient 75 | M | 60 | FANCD2 germline | p.Q718* | Nonsense | 417-gene |
Patient 191 | M | 47 | MLH1 somatic | p.N287Kfs*10 | Frameshift | 150-gene |
Patient 145 | M | 57 | MLH1 somatic | – | CNV-loss | 150-gene |
Patient115 | M | 62 | MSH2 somatic | p.N566Ifs*24 | Frameshift | 150-gene |
Patient 115 | M | 62 | MSH6 somatic | p.F1088Sfs*2 | Frameshift | 150-gene |
Patient 192 | F | 50 | PALB2 somatic | p.F440Lfs*12 | Frameshift | 417-gene |
Patient 192 | F | 50 | PALB2 germline | p.R753* | Nonsense | 417-gene |
Patient 50 | F | 56 | PMS2 somatic | – | CNV-loss | 381-gene |
Patient 160 | M | 51 | RAD50 germline | p.Q826* | Nonsense | 417-gene |
Patient 28 | M | 67 | RAD50 germline | c.3618 + 1G > A | Intron mutation | 417-gene |
Patient 152 | M | 76 | RAD50 germline | p.R1077* | Nonsense | 417-gene |
Patient 50 | F | 56 | RAD51 somatic | – | CNV-loss | 381-gene |