Table 2.
Genotypes and haplotypes identified in carriers of PALB2 c.1027C>T and PALB2 c.2167_2168delAT
| Markers and genotypes and haplotypesa | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Mutation | Ancestry | Family | # carriers | 21732AC23 | 23037GT23 | D16S412 | 23622TCTA14 | 23749TATG14 | D16S417 | D16S401 |
| c.1027C>T | Italian | BG03 | 1 | 216/220 | 228 | 239 | 131 | 280 | 162 | 270 |
| c.1027C>T | Italian | BG149 | 1 | 216/218 | 228 | 239/241 | 131 | 280 | 162 | 270/274 |
| c.1027C>T | Italian | BG363 | 1 | 216/224 | 228 | 239 | 131 | 280 | 162 | 270/274 |
| c.1027C>T | Italian | MI04 | 2 | 216 | 228 | 239 | 131 | 280 | 162 | 270 |
| c.1027C>T | Italian | BG04 | 4 | 220 | 228 | 239 | 131 | 280 | 162 | 272 |
| c.1027C>T | Italian | MI06 | 2 | 220 | 228 | 239 | 131 | 280 | 162 | 272 |
| c.1027C>T | Italian | BG02 | 1 | 224/220 | 230/238 | 243/241 | 131 | 280 | 162 | 270/276 |
| c.1027C>T | Italian | BG05 | 1 | 224/220 | 230/236 | 243/239 | 131 | 280 | 162 | 270 |
| c.1027C>T | Italian | BG06 | 1 | 224/220 | 230/228 | 243/241 | 131 | 280 | 162 | 270 |
| c.1027C>T | Italian | MI12/BG01 | 5 | 224 | 230 | 243 | 131 | 280 | 162 | 272 |
| c.2167delAT | Italian | MI03 | 2 | 216 | 232 | 243 | 147 | 276 | 162 | 266 |
| c.2167delAT | Italian | CF1908 | 10 | 218 | 230 | 239 | 147 | 276 | 162 | 266 |
| c.2167delAT | Hispanic | CH7088 | 1 | 220/226 | 240/228 | 245/237 | 139/135 | 284/276 | 158/162 | 268 |
| c.2167delAT | Hispanic | CH7777 | 1 | 220/226 | 240/238 | 245 | 139/123 | 284/280 | 158/176 | 272/264 |
| c.2167delAT | Hispanic | CH8877 | 1 | 220/226 | 240/242 | 245 | 139/131 | 284 | 158 | 272/274 |
| c.2167delAT | Nigerian | N286 | 1 | 214/218 | 228 | 239/241 | 139 | 280 | 158/166 | 268/270 |
a
Core haplotypes shared among unrelated families are underlined