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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   80%P, 100%S NA 8q, 20q, 16p, 17q, 1q 16q, 13q, 17p, 8p NA  
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]
  1. aLOH loss of heterozygosity, AI allelic imbalance, CGH comparative genomic hybridization, SNV single nucleotide variant, WGS whole-genome sequencing, FISH fluorescence in situ hybridization, NA not available or not applicable. Gains are considered when chromosomal imbalance is > 1.25 and losses are considered when it is < 0.8 of the normal allelic ratio. AI is considered when the imbalance is > 1.33 or < 0.75 of the normal allelic ratio. Any gains or losses are reported when changes occurred in at least one sample of the cohort. P = pure ADH (no synchronous carcinoma), S = ADH with synchronous carcinoma
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