Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|2 | |2 | ||
|Gain of function | |Gain of function | ||
|190198 | |[https://omim.org/entry/190198 190198] | ||
|NOTCH1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NOTCH1 NOTCH1] | ||
|NOTCH1 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&case_set_id=all&gene_list=NOTCH1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NOTCH1 breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. Therapy: inactivating mutations potentially targetable with LGK974, a porcupine inhibitor currently in clinical trials. NOTCH activation downregulates p63. Reduced Notch1 expression associates with increased paclitaxel sensitivity. | |Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. Therapy: inactivating mutations potentially targetable with LGK974, a porcupine inhibitor currently in clinical trials. NOTCH activation downregulates p63. Reduced Notch1 expression associates with increased paclitaxel sensitivity. | ||
|40025676; 37660928; 34599282; 31857685; 26121683; 33384996; 24451948; 24277854;22101766;16166334 | |[https://pubmed.ncbi.nlm.nih.gov/40025676/ 40025676]; [https://pubmed.ncbi.nlm.nih.gov/37660928/ 37660928]; [https://pubmed.ncbi.nlm.nih.gov/34599282/ 34599282]; [https://pubmed.ncbi.nlm.nih.gov/31857685/ 31857685]; [https://pubmed.ncbi.nlm.nih.gov/26121683/ 26121683]; [https://pubmed.ncbi.nlm.nih.gov/33384996/ 33384996]; [https://pubmed.ncbi.nlm.nih.gov/24451948/ 24451948]; [https://pubmed.ncbi.nlm.nih.gov/24277854/ 24277854]; [https://pubmed.ncbi.nlm.nih.gov/22101766/ 22101766]; [https://pubmed.ncbi.nlm.nih.gov/16166334/ 16166334] | ||
|- | |- | ||
|''NOTCH2'' | |''NOTCH2'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|600275 | |[https://omim.org/entry/600275 600275] | ||
|NOTCH2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NOTCH2 NOTCH2] | ||
|NOTCH2 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&case_set_id=all&gene_list=NOTCH2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NOTCH2 breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. NOTCH activation downregulates p63. | |Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. NOTCH activation downregulates p63. | ||
|31857685 | |[https://pubmed.ncbi.nlm.nih.gov/31857685/ 31857685] | ||
|- | |- | ||
|''NOTCH3'' | |''NOTCH3'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|600276 | |[https://omim.org/entry/600276 600276] | ||
|NOTCH3 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NOTCH3 NOTCH3] | ||
|NOTCH3 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&case_set_id=all&gene_list=NOTCH3&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NOTCH3 breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. NOTCH activation downregulates p63. | |Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. NOTCH activation downregulates p63. | ||
|31857685; 33384996;29795369;28108512;30180881 | |[https://pubmed.ncbi.nlm.nih.gov/31857685/ 31857685]; [https://pubmed.ncbi.nlm.nih.gov/33384996/ 33384996]; [https://pubmed.ncbi.nlm.nih.gov/29795369/ 29795369]; [https://pubmed.ncbi.nlm.nih.gov/28108512/ 28108512]; [https://pubmed.ncbi.nlm.nih.gov/30180881/ 30180881] | ||
|- | |- | ||
|''NOTCH4'' | |''NOTCH4'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|164951 | |[https://omim.org/entry/164951 164951] | ||
|NOTCH4 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NOTCH4 NOTCH4] | ||
|NOTCH4 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&case_set_id=all&gene_list=NOTCH4&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NOTCH4 breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Diseases: Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. | |Diseases: Diseases: enriched in TNBC, solid basaloid subtype of adenoid cystic carcinoma. | ||
|31857685; 33384996; 32104513; 34284787;20068161 | |[https://pubmed.ncbi.nlm.nih.gov/31857685/ 31857685]; [https://pubmed.ncbi.nlm.nih.gov/33384996/ 33384996]; [https://pubmed.ncbi.nlm.nih.gov/32104513/ 32104513]; [https://pubmed.ncbi.nlm.nih.gov/34284787/ 34284787]; [https://pubmed.ncbi.nlm.nih.gov/20068161/ 20068161] | ||
|- | |- | ||
|''NPM1'' | |''NPM1'' | ||