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. 2017 Jan 1;7(1):98–114.

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.