Breast Cancer: Recurrent Genomic Alterations: Difference between revisions

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{| class="wikitable"
|'''Alteration'''
|'''Relevant Gene(s)'''
|'''CGC Evidence Level'''
|'''Subgroup Association(s)'''
|-
|1q gain
| unknown
|2
|Most common copy number alteration, often with 16q loss; all subtypes
|-
|8p11.2 amplification
|''FGFR1'', ''ZNF703''
|2
|METABRIC IntClust6, ER positive
|-
|8q24 amplification
|''MYC''
|2
|METABRIC IntClust9, ER positive
|-
|9p24 amplification
|''JAK2, CD274, PDCD1LG2''
|2
|Enriched in TNBC
|-
|10q23.3 loss or LOH
|''PTEN''
|2
|Enriched in TNBC and in lobular carcinoma
|-
|11q13-q14 gain / amplification
|''CCND1'', ''EMS1'', and others
|2
|METABRIC IntClust2
|-
|16q loss / LOH
|''CDH1''
|2
|METABRIC IntClust2, ER positive
|-
|17p loss / LOH
|''TP53''
|2
|TNBC, basal-like intrinsic subtype
|-
|17q12 amplification
|''ERBB2'' (''HER2'')
|1
|METABRIC IntClust5, HER2-enriched
|-
|17q21 amplification
|''TOP2A''
|2
|METABRIC IntClust5, HER2-enriched
|-
|17q23 amplification (“17q distal amplicon”)
|''RPS6KB'', others
|2
|METABRIC IntClust1
|-
|19q12
|''CCNE1''
|2
|METABRIC IntClust5; HER2-enriched
|-
|20q gain; 20q13 amp
|''AURKA'', ''GNAS'', ''ZNF217''
|2
|METABRIC IntClust1, ER Positive
|}

Revision as of 14:19, 20 April 2021

Alteration Relevant Gene(s) CGC Evidence Level Subgroup Association(s)
1q gain unknown 2 Most common copy number alteration, often with 16q loss; all subtypes
8p11.2 amplification FGFR1, ZNF703 2 METABRIC IntClust6, ER positive
8q24 amplification MYC 2 METABRIC IntClust9, ER positive
9p24 amplification JAK2, CD274, PDCD1LG2 2 Enriched in TNBC
10q23.3 loss or LOH PTEN 2 Enriched in TNBC and in lobular carcinoma
11q13-q14 gain / amplification CCND1, EMS1, and others 2 METABRIC IntClust2
16q loss / LOH CDH1 2 METABRIC IntClust2, ER positive
17p loss / LOH TP53 2 TNBC, basal-like intrinsic subtype
17q12 amplification ERBB2 (HER2) 1 METABRIC IntClust5, HER2-enriched
17q21 amplification TOP2A 2 METABRIC IntClust5, HER2-enriched
17q23 amplification (“17q distal amplicon”) RPS6KB, others 2 METABRIC IntClust1
19q12 CCNE1 2 METABRIC IntClust5; HER2-enriched
20q gain; 20q13 amp AURKA, GNAS, ZNF217 2 METABRIC IntClust1, ER Positive
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