Table 1 Major genetic features of atypical ductal hyperplasia
From: Atypical ductal hyperplasia: update on diagnosis, management, and molecular landscape
Methoda | Number of samples | Number of loci or genomic resolution | Cases with aberration | Average cases altered per locus | Location of copy number gaina | Location of copy number loss/LOH/AIa | SNVa | Reference |
|---|---|---|---|---|---|---|---|---|
LOH | 10P | 2 | 50% | 38.9% | NA | 16q, 17p | NA | [43] |
LOH | 26P 25S | 15 | 42%P 44%S | 6.2% 9.5% | NA | 11p, 13q, 16q, 17p, 17q | NA | [45] |
LOH | 23S | 14 | NA | 15% | NA | 8p,16q,17q | NA | [79] |
LOH | 16S | 22 | 75% | 13% | NA | 1q, 3p, 11p, 11q, 16q, 17p | NA | [44] |
LOH | 31P | 26 | 65% | 6.1% | NA | 8q | NA | [67] |
LOH total | 131 (67P, 64S) | 2–26 | 53%P, 70%S | 15% | NA | 16q (24%), 13q (15%), 17q (12%), 11p (12%), 17p (10%) | NA |  |
CGH | 9P | 5–10 Mb | 55% | NA | 1q, 16p, 11q | 16q, 17p, 20p | NA | [80] |
CGH | 2P | 5–10 Mb | 100% | NA | 1q, 3p, 6p, 10p, 11q, 12q, 13q, 16p, 17q, 20q, 8q, 14q, 15q | 4q, 5q, 1p, 13q, 16q, 17p | NA | [55] |
CGH | 3S | 5–10 Mb | 100% | NA | 3p, 8q, 15q, 16p, 20q, 22q | 13q, 16q | NA | [56] |
CGH | 15P | 5–10 Mb | 93% | NA | 1p, 1q, 2q, 8q, 10p, 17q, 20q, 20p, 2q, Xp | 8p, 9p, 11q, 13q, 14q, 16q, 21q, Xp | NA | [54] |
CGH total | 29 | Â | 80%P, 100%S | NA | 8q, 20q, 16p, 17q, 1q | 16q, 13q, 17p, 8p | NA | Â |
Targeted sequencing | 4 | 130–296 SNV/case | 100% | NA | NA | NA | Lineage heterogeneity | [58] |
WGS | 2 | 1 base pair | 100% | NA | 1q gain early neoplastic event | – | ADH and carcinoma shared SNVs | [57] |
FISHP | 9 | 8 | 100% | 45.6% | 7, 8, 18 | – | – | [51] |
FISHS | 13 | 1 | 54% | NA | Higher ERBB2 amplification from ADH to DCIS to IDC | NA | NA | [65] |