Table 2. Most common recurrent copy number alterations detected by a-CGH in CDC73-mutated parathyroid tumors (T2–T8) with corresponding region of LOH.
Cytoband | Start Clone | End Clone | Position (Mb) | Size (Mb) | No. Of Clones | Freq % | Tumors Affected | SNP-based LOH | Examples* |
Losses | |||||||||
1p21.2-13.3 | RP11-721B18 | RP11-483I13 | 102740298-108610118 | 5.9 | 75 | 38% | T6, T7, T5b | No | RNPC3, VAV3 |
9p23-24.1 | RP11-403H13 | RP11-382H24 | 6858099-13122077 | 6.2 | 73 | 25% | T4, T5b | No | PTPRD |
18q22.1-22.2 | RP11-26L13 | RP11-49H23 | 63370817-65089302 | 1.7 | 22 | 25% | T6, T7 | Yes | TXNDC10 |
Gains | |||||||||
1q21.3-23.1 | RP11-744J16 | RP11-711O18 | 150155440-153665553 | 3.5 | 43 | 25% | T6, T8 | Yes | S100A5 |
1q32.1 | RP11-115O14 | RP11-161C18 | 196402802-203224723 | 6.8 | 88 | 25% | T6, T5B | Yes | ELK4 |
5q31.1 | RP11-21C10 | RP11-158M10 | 133880078- 135502898 | 1.6 | 24 | 25% | T6, T7 | Yes | CAMLG, DDX46, CATSPER3, PITX1, TIFAB |
9p13.1-21.1 | RP11-340D22 | RP13-198D9 | 32618776-38734139 | 6 | 74 | 25% | T7, T5b | No | FANCG, PAX5 |
11q12.2-13.2 | RP11-727C13 | RP11-428E19 | 60661723-67118617 | 6.5 | 82 | 25% | T8, T5b | No | MEN1 |
12q13.11-14.1 | RP11-204C20 | RP11-571M6 | 46894554- 56496966 | 9.6 | 138 | 25% | T8, T5b | No | CDK4, DDIT3 , HOXC11 and 13, NACA |
16q22.1 | RP11-1150F18 | RP11-6M2 | 64948284- 69264998 | 4.3 | 61 | 63% | T3, T5a, T5b, T6, T8 | No | CBFB, CDH1 |
16p11.2 | RP11-544O7 | RP11-466D2 | 27824814- 31535714 | 3.7 | 49 | 63% | T3, T5a, T5b, T6, T8 | No | FUS |
17p11.2 | RP11-537F12 | RP11-34O10 | 16592363- 18318880 | 1.7 | 21 | 50% | T3, T5a, T5b, T8 | No | FLCN, MED9, MIR33B |
18p11.21 | RP11-44O1 | RP11-510L15 | 12610439- 13384576 | 0.8 | 11 | 25% | T7, T8 | No | PTPN2 |
20q11.21 | RP11-802B20 | RP11-471K3 | 29454263-31300949 | 1.8 | 21 | 63% | T5a, T5b, T6, T7, T8 | No | ASXL1 |
21q22.3 | RP11-1007O14 | RP11-726J13 | 44825264- 45558273 | 0.7 | 10 | 38% | T3, T5a, T5b | No | PTTG1IP, |
22q11.23 | RP11-164N13 | RP11-698L6 | 21892457-22518106 | 0.6 | 4 | 38% | T2, T5a, T5b | No | SMARCB1, BCR |
22q13.1 | RP11-555L22 | RP11-168F23 | 36717836- 37293012 | 0.6 | 4 | 63% | T5a, T5b, T6, T7, T8 | No | DDX17, DMC1 |
Genes written in bold are known cancer genes according to Cancer Gene Census, Welcome Trust, Sanger Institute.