Skip to main content

Table 1 Summary of the genetic abnormalities detected in pre-invasive lesions of the breasta

From: The diagnosis and management of pre-invasive breast disease Genetic alterations in pre-invasive lesions

Lesion Method Gainsb Losses / LOH / AIb Reference
Normal cells LOH - 2pter, 16q23.1-24.2, 17q21, 17q24 17
  LOH - 9p, 11p, 13q, 16q, 17p 56
  LOH - 3p24, 11p15.5, 17p13.1 60
  LOH - 1q, 7q, 11p, 16q, 17q 61
  LOH - 11p, 13q 63
  LOH - 3p24.3 64
  LOH - 2pter, 2q35, 4q25, 6qter, 8p, 9p, 11p15, 11q23, 13q13, 14q24, 16q21, 17p13, 17q11, 17q21, 17q25 13
  CGH 1q+, 1q32-42+, 12+, 17q21+, 20+ 8-, 8p12-pter-, 9-, 10p-, 11q14-qter-, 18-, X-, 16q-, 17p-, 20p- 54
  LOH - 16q, 17p, 17q 55
  LOH - 9p, 11p, 13q, 16q, 17q 56
  CGH 13q 1p, 16p, 17q, 19p, 22q 57
ADH LOH - 2pter, 2q35, 6qter, 8p, 9p, 11p15, 11q23, 13q13, 14q24, 16q21, 17p13, 17q11, 17q21, 13
  LOH - 17q25, 16q, 17p 52
  LOH - 8p, 16q, 17q 53
  CGH 1q, 10, 16p, 8q21-qter, 14q 3q11-q21, 8p12-pter, 16q,20, 11q12-13, 16q 16q, 20p, 16q, 17p, 21q11-q21, 16q, 17p 54
ALH/LCIS CGH 1q, 1q21-q32, 1q25-qter, 8p11-p12, 12q14-q21 7p, 8p, 8p21-pter, 12q24, 16q, 17p, 13q12-q21; 16q; 17p12-p13 31
  CGH 6q 16p, 16q, 17p, 22q 32
Columnar cell change/clinging ca LOH - 2p, 3p, 11q, 11q, 16q, 16q, 17q, 17q 60
DCISc See text See text See text See text
  1. -, none. aFor LOH analyses, only those studies in which more than one chromosomal arm was evaluated were included in the table. bAll chromosomal gains and losses reported in the cited studies (references) were included. For the frequency of each genetic abnormality, please see text and cited references. cDCIS of different grades harbour distinct chromosomal abnormalities. Genetic abnormalities of nearly all chromosomal arms have been reported in high-grade DCIS. See text for details. ADH, atypical ductal hyperplasia; AI, allelic imbalance; ALH/LCIS, atypical lobular hyperplasia/lobular carcinoma in situ; Columnar cell change/ clinging ca, columnar cell change/clinging carcinoma; DCIS, ductal carcinoma in situ; HUT, hyperplasia of usual type; LOH, loss of heterozygosity.