Table 2.
Microsatellite markers and ID test results in the 16 cases with discordant germline/tumor mutation status
| Case | DNA sample | BRCA1 locus (17q21.31) | BRCA2 locus (13q13.1) | ||||
|---|---|---|---|---|---|---|---|
|
|
|
||||||
| D17S323* | D17S1322* | D17S801** | D13S260** | D13S1698** | D13S267** | ||
| 1 | Germline | 151/157 | 116/119 | 228/239 | |||
| Tumor | 151/157 | 116/119 | 228/239 | ||||
| 2 | Germline | 148/150 | 113/116 | 232/232 | |||
| Tumor | 148/150 | 113/116 | 232/232 | ||||
| Normal | 148/150 | 113/116 | 232/232 | ||||
| 3 | Germline | 148/151 | 113/116 | 232/234 | |||
| Tumor | 148/151 | 113/116 | 232/234 | ||||
| 4 | Germline | 148/151 | 119/122 | 238/240 | |||
| Tumor | 148/151 | 119/122 | 238/240 | ||||
| 5 | Germline | 148/150 | 116/116 | 232/232 | |||
| Tumor | 148/150 | 116/116 | 232/232 | ||||
| 6 | Germline | 148/150 | 116/116 | 232/238 | |||
| Tumor | 148/150 | 116/116 | 232/238 | ||||
| 7 | Germline | 148/150 | 113/116 | 232/232 | |||
| Tumor | 148/150 | 113/116 | 232/232 | ||||
| Normal | 148/150 | 113/116 | 232/232 | ||||
| 8 | Germline | 146/146 | 116/116 | 230/232 | |||
| Tumor | 146/146 | 116/116 | 230/232 | ||||
| 9 | Germline | 148/150 | 116/116 | 232/232 | |||
| Tumor | 148/150 | 116/116 | 232/232 | ||||
| 10 | Germline | 148/150 | 116/116 | 230/232 | |||
| Tumor | 148/150 | 116/116 | 230/232 | ||||
| 11 | Germline | 148/150 | 116/116 | 232/238 | |||
| Tumor | 148/150 | 116/116 | 232/238 | ||||
| 12 | Germline | 148/150 | 116/116 | 230/232 | |||
| Tumor | 148/150 | 116/116 | 230/232 | ||||
| 13 | Germline | Not available | |||||
| Germline# | 150/160 | 116/119 | 228/236 | 159/163 | 153/155 | 147/154 | |
| Tumor | 148/150 | 116/119 | 232/236 | 159/160 | 151/155 | 148/154 | |
| 14 | Germline | 148/150 | 113/116 | 232/242 | 155/165 | 155/161 | 141/141 |
| Tumor | 148/150 | 116/116^ | 232/232^ | 165/165 | 150/155 | 143/143 | |
| 15## | Germline | 151/157 | 116/125 | 228/232 | 155/167 | 159/171 | 149/156 |
| Tumor | 151/153 | 122/122 | 240/240 | 159/160 | 164/151 | 148/154 | |
| Tumor (2nd) | 159/160 | 164/151 | 148/154 | ||||
| 16## | Germline | 150/159 | 116/119 | 240/240 | |||
| Tumor | 148/150 | 116/116 | 232/232 | ||||
Intragenic markers;
Extragenic markers;
Germline allele lost in tumor (case TN021);
Genomic DNA was unavailable from the proband, so her daughther’s DNA was used instead;
Mismatched cases, excluded from the analysis.