Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|MYB breast | |MYB breast | ||
|fusion, other structural rearrangement, amplification | |fusion, other structural rearrangement, amplification | ||
|Diseases: Adenoid cystic carcinoma (MYB::NFIB | |Diseases: Adenoid cystic carcinoma (''MYB''::''NFIB'' is most common fusion) | ||
|19841262; 26095796; 29149504 | |19841262; 26095796; 29149504 | ||
|- | |- | ||
| Line 1,441: | Line 1,441: | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|602967 | |[https://omim.org/entry/602967?search=602967&highlight=602967 602967] | ||
|ZNF217 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ZNF217 ZNF217] | ||
|ZNF217 breast | |[https://www.cbioportal.org/results/oncoprint?cancer_study_list=acbc_mskcc_2015%2Cbreast_cptac_gdc%2Cbrca_hta9_htan_2022%2Cbrca_metabric%2Cbreast_msk_2025%2Cbreast_msk_2018%2Cbrca_pareja_msk_2020%2Cbrca_mskcc_2019%2Cbreast_alpelisib_2020%2Cbrca_smc_2018%2Cbrca_bccrc_xenograft_2014%2Cbfn_duke_nus_2015%2Cbrca_bccrc%2Cbrca_broad%2Cbrca_sanger%2Cbrca_tcga_pub2015%2Cbrca_tcga%2Cbrca_tcga_pub%2Cbrca_tcga_pan_can_atlas_2018%2Cbrca_tcga_gdc%2Cbrca_jup_msk_2020%2Cbrca_mapk_hp_msk_2021%2Cmbc_msk_2021%2Cbrca_aurora_2023%2Cbrca_dfci_2020%2Cbrca_igr_2015%2Cbreast_ink4_msk_2021%2Cilc_msk_2023%2Cbrca_cptac_2020%2Cbrca_mbcproject_wagle_2017%2Cbrca_mbcproject_2022%2Cbrca_fuscc_2020&Z_SCORE_THRESHOLD=2.0&RPPA_SCORE_THRESHOLD=2.0&profileFilter=mutations%2Cstructural_variants%2Ccna%2Cgistic%2Clog2CNA&case_set_id=all&gene_list=ZNF217&geneset_list=%20&tab_index=tab_visualize&Action=Submit ZNF217 breast] | ||
|amplification, other structural rearrangement, altered expression | |amplification, other structural rearrangement, altered expression | ||
|Diseases: mutations in non-coding regions associated with BC in patients with African ancestry. Amplification (20q13). Poor prognosis associated with exon 4-skipping isoform (ZNF217-ΔE4). Associated with migration/invasion, EMT, and bone metastasis. | |Diseases: mutations in non-coding regions associated with BC in patients with African ancestry. Amplification (20q13). Poor prognosis associated with exon 4-skipping isoform (ZNF217-ΔE4). Associated with migration/invasion, EMT, and bone metastasis. | ||
|34836952; 17040570; 34277402; 22728437; 28207159 | |[https://pubmed.ncbi.nlm.nih.gov/34836952/ 34836952]; [https://pubmed.ncbi.nlm.nih.gov/17040570/ 17040570]; [https://pubmed.ncbi.nlm.nih.gov/34277402/ 34277402]; [https://pubmed.ncbi.nlm.nih.gov/34277402/ 22728437]; [https://pubmed.ncbi.nlm.nih.gov/28207159/ 28207159] | ||
|- | |- | ||
|''ZNF703'' | |''ZNF703'' | ||
|3 | |3 | ||
|Gain of function | |Gain of function | ||
|617045 | |[https://omim.org/entry/617045 617045] | ||
|ZNF703 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ZNF703 ZNF703] | ||
|ZNF703 breast | |[https://www.cbioportal.org/results/oncoprint?cancer_study_list=acbc_mskcc_2015%2Cbreast_cptac_gdc%2Cbrca_hta9_htan_2022%2Cbrca_metabric%2Cbreast_msk_2025%2Cbreast_msk_2018%2Cbrca_pareja_msk_2020%2Cbrca_mskcc_2019%2Cbreast_alpelisib_2020%2Cbrca_smc_2018%2Cbrca_bccrc_xenograft_2014%2Cbfn_duke_nus_2015%2Cbrca_bccrc%2Cbrca_broad%2Cbrca_sanger%2Cbrca_tcga_pub2015%2Cbrca_tcga%2Cbrca_tcga_pub%2Cbrca_tcga_pan_can_atlas_2018%2Cbrca_tcga_gdc%2Cbrca_jup_msk_2020%2Cbrca_mapk_hp_msk_2021%2Cmbc_msk_2021%2Cbrca_aurora_2023%2Cbrca_dfci_2020%2Cbrca_igr_2015%2Cbreast_ink4_msk_2021%2Cilc_msk_2023%2Cbrca_cptac_2020%2Cbrca_mbcproject_wagle_2017%2Cbrca_mbcproject_2022%2Cbrca_fuscc_2020&Z_SCORE_THRESHOLD=2.0&RPPA_SCORE_THRESHOLD=2.0&profileFilter=mutations%2Cstructural_variants%2Ccna%2Cgistic%2Clog2CNA&case_set_id=all&gene_list=ZNF703&geneset_list=%20&tab_index=tab_visualize&Action=Submit ZNF703 breast] | ||
|amplification | |amplification | ||
|Diseases: ER positive BC and luminal B; Therapy: BC cell lines overexpressing ZNF703 may be more resistant to tamoxifen treatment; Prognosis: may be poor in some cases (part of 8p11.2 gain/amplification) | |Diseases: ER positive BC and luminal B; Therapy: BC cell lines overexpressing ZNF703 may be more resistant to tamoxifen treatment; Prognosis: may be poor in some cases (part of 8p11.2 gain/amplification) | ||
|21328542; 21337521; 23991038; 24156016 | |[https://pubmed.ncbi.nlm.nih.gov/21328542/ 21328542]; [https://pubmed.ncbi.nlm.nih.gov/21337521/ 21337521]; [https://pubmed.ncbi.nlm.nih.gov/23991038/ 23991038]; [https://pubmed.ncbi.nlm.nih.gov/24156016/ 24156016] | ||
|} | |} | ||
Abbreviations: BC, breast cancer. TNBC, triple negative breast cancer. | Abbreviations: BC, breast cancer. TNBC, triple negative breast cancer. | ||