Breast Cancer: Recurrent Genomic Alterations
Revision as of 14:19, 20 April 2021 by Kilannin.Krysiak (talk | contribs) (Adding table 4 of the manuscript)
| 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 |