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

Breast Cancer Research

Table 1 Summary of the genetic abnormalities detected in pre-invasive lesions of the breast^a

Lesion	Method	Gains^b	Losses / LOH / AI^b	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
HUT	CGH	No	No	6
	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
DCIS^c	See text	See text	See text	See text

-, 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.

ISSN: 1465-542X