Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|3 | |3 | ||
|Loss of function | |Loss of function | ||
|300128 | |[https://omim.org/entry/300128 300128] | ||
|KDM6A | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KDM6A KDM6A] | ||
|KDM6A 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=KDM6A&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true KDM6A breast] | ||
|sequence variants, other structural rearrangement | |sequence variants, other structural rearrangement | ||
|Diseases: Enriched in solid basaloid subtype of adenoid cystic carcinoma and metaplastic BC. KDM6A and KDM6B are H3K27me3-demethylases involved in post-translational modifications of histones; context-dependent modulation of tumor cell transition between epithelial and mesenchymal states. Mostly a role for loss of function but the mechanism is complex. | |Diseases: Enriched in solid basaloid subtype of adenoid cystic carcinoma and metaplastic BC. KDM6A and KDM6B are H3K27me3-demethylases involved in post-translational modifications of histones; context-dependent modulation of tumor cell transition between epithelial and mesenchymal states. Mostly a role for loss of function but the mechanism is complex. | ||
|25927147; 29029452; 37660928; 34599282 | |[https://pubmed.ncbi.nlm.nih.gov/25927147/ 25927147]; [https://pubmed.ncbi.nlm.nih.gov/29029452/ 29029452]; [https://pubmed.ncbi.nlm.nih.gov/37660928/ 37660928]; [https://pubmed.ncbi.nlm.nih.gov/34599282/ 34599282] | ||
|- | |- | ||
|''KDR'' | |''KDR'' | ||
|2 | |2 | ||
|Other/Complex | |Other/Complex | ||
|191306 | |[https://omim.org/entry/191306 191306] | ||
|KDR | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KDR KDR] | ||
|KDR 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=KDR&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true KDR breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Diseases: postradiation and primary angiosarcoma. In primary angiosarcoma , indicator of worse prognosis. Formerly named VEGFR2. | |Diseases: postradiation and primary angiosarcoma. In primary angiosarcoma , indicator of worse prognosis. Formerly named VEGFR2. | ||
|19723655; 31636652; 36376999; 32042194; 32123305 | |[https://pubmed.ncbi.nlm.nih.gov/19723655/ 19723655]; [https://pubmed.ncbi.nlm.nih.gov/31636652/ 31636652]; [https://pubmed.ncbi.nlm.nih.gov/36376999/ 36376999]; [https://pubmed.ncbi.nlm.nih.gov/32042194/ 32042194]; [https://pubmed.ncbi.nlm.nih.gov/32123305/ 32123305] | ||
|- | |- | ||
|''KMT2B'' | |''KMT2B'' | ||
|3 | |3 | ||
|Loss of function | |Loss of function | ||
|606834 | |[https://omim.org/entry/606834 606834] | ||
|KMT2B | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KMT2B KMT2B] | ||
|KMT2B 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=KMT2B&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true KMT2B breast] | ||
|sequence variants, other structural rearrangement, altered expression | |sequence variants, other structural rearrangement, altered expression | ||
|Diseases: all subtypes; enriched in metaplastic BC (referred to as MLL2 gene). | |Diseases: all subtypes; enriched in metaplastic BC (referred to as MLL2 gene). | ||
|25927147; 34544752; 35058979 | |[https://pubmed.ncbi.nlm.nih.gov/25927147/ 25927147]; [https://pubmed.ncbi.nlm.nih.gov/34544752/ 34544752]; [https://pubmed.ncbi.nlm.nih.gov/35058979/ 35058979] | ||
|- | |- | ||
|''KMT2C'' | |''KMT2C'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|606833 | |[https://omim.org/entry/606833 606833] | ||
|KMT2C | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KMT2C KMT2C] | ||
|KMT2C 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=KMT2C&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true KMT2C breast] | ||
|sequence variants, fusion | |sequence variants, fusion | ||
|Diseases: enriched in special subtypes including solid basaloid subtype of adenoid cystic carcinoma, metaplastic BC, basal- like or claudin low TNBC, mucinous carcinoma; metastatic breast cancers, neuroendocrine neoplasms | |Diseases: enriched in special subtypes including solid basaloid subtype of adenoid cystic carcinoma, metaplastic BC, basal- like or claudin low TNBC, mucinous carcinoma; metastatic breast cancers, neuroendocrine neoplasms | ||
|28153863; 30649385; 31118521; 30649385; 34728787; 34599282; 33148628 | |[https://pubmed.ncbi.nlm.nih.gov/35058979/ 28153863]; [https://pubmed.ncbi.nlm.nih.gov/30649385/ 30649385]; [https://pubmed.ncbi.nlm.nih.gov/31118521/ 31118521]; [https://pubmed.ncbi.nlm.nih.gov/30649385/ 30649385]; [https://pubmed.ncbi.nlm.nih.gov/34728787/ 34728787]; [https://pubmed.ncbi.nlm.nih.gov/34599282/ 34599282]; [https://pubmed.ncbi.nlm.nih.gov/33148628/ 33148628] | ||
|- | |- | ||
|''KMT2D'' | |''KMT2D'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|602113 | |[https://omim.org/entry/602113 602113] | ||
|KMT2D | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KMT2D KMT2D] | ||
|KMT2D 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=KMT2D&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true KMT2D breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: enriched in solid basaloid subtype of adenoid cystic carcinoma, phyllodes tumor; metaplastic BC. NOTCH activation downregulates p63. Germline: Kabuki syndrome | |Diseases: enriched in solid basaloid subtype of adenoid cystic carcinoma, phyllodes tumor; metaplastic BC. NOTCH activation downregulates p63. Germline: Kabuki syndrome | ||
|26437033; 28153863; 28336670; 33782741; 34336928; 32383785; 30990809; 37660928 | |[https://pubmed.ncbi.nlm.nih.gov/26437033/ 26437033]; [https://pubmed.ncbi.nlm.nih.gov/28153863/ 28153863]; [https://pubmed.ncbi.nlm.nih.gov/28336670/ 28336670]; [https://pubmed.ncbi.nlm.nih.gov/33782741/ 33782741]; [https://pubmed.ncbi.nlm.nih.gov/34336928/ 34336928]; [https://pubmed.ncbi.nlm.nih.gov/32383785/ 32383785]; [https://pubmed.ncbi.nlm.nih.gov/30990809/ 30990809]; [https://pubmed.ncbi.nlm.nih.gov/37660928/ 37660928] | ||
|- | |- | ||
|''KRAS'' | |''KRAS'' | ||
|3 | |3 | ||
|Gain of function | |Gain of function | ||
|190070 | |[https://omim.org/entry/190070 190070] | ||
|KRAS | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KRAS KRAS] | ||
|KRAS 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=KRAS&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true KRAS breast] | ||
|amplification, sequence variants | |amplification, sequence variants | ||
|Diseases: metaplastic BC, apocrine, basal- like or claudin low TNBC. Rare. | |Diseases: metaplastic BC, apocrine, basal- like or claudin low TNBC. Rare. | ||
|28027454; 28153863; 29946183; 36358741; 36358725 | |[https://pubmed.ncbi.nlm.nih.gov/28027454/ 28027454]; [https://pubmed.ncbi.nlm.nih.gov/28153863/ 28153863]; [https://pubmed.ncbi.nlm.nih.gov/28153863/ 29946183]; [https://pubmed.ncbi.nlm.nih.gov/36358741/ 36358741]; [https://pubmed.ncbi.nlm.nih.gov/36358725/ 36358725] | ||
|- | |- | ||
|''LRP1B'' | |''LRP1B'' | ||
|3 | |3 | ||
|Other/Complex | |Other/Complex | ||
|608766 | |[https://omim.org/entry/608766 608766] | ||
|LRP1B | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=LRP1B LRP1B] | ||
|LRP1B 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=LRP1B&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true LRP1B breast] | ||
|sequence variants, amplification, other structural rearrangement | |sequence variants, amplification, other structural rearrangement | ||
|Observed in ~4.3% of breast cancers (CBioPortal), Nuclear LRP1B is assoc w/ poor patient prognosis, but patients with mutation LRP1B have favorable outcomes to immune checkpoint inhibitors in multiple cancers | |Observed in ~4.3% of breast cancers (CBioPortal), Nuclear LRP1B is assoc w/ poor patient prognosis, but patients with mutation LRP1B have favorable outcomes to immune checkpoint inhibitors in multiple cancers | ||
|30607440; 31164891; 33653800; 32850302 | |[https://pubmed.ncbi.nlm.nih.gov/30607440/ 30607440]; [https://pubmed.ncbi.nlm.nih.gov/31164891/ 31164891]; [https://pubmed.ncbi.nlm.nih.gov/33653800/ 33653800]; [https://pubmed.ncbi.nlm.nih.gov/32850302/ 32850302] | ||
|- | |- | ||
|''MAF'' | |''MAF'' | ||
|3 | |3 | ||
|Gain of function | |Gain of function | ||
|177075 | |[https://omim.org/entry/177075 177075] | ||
|MAF | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MAF MAF] | ||
|MAF 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=MAF&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MAF breast] | ||
|amplification | |amplification | ||
|Diseases: associated with bone metastases from larger, high-grade breast cancers. Bisphosphonates (Zoledronic acid) possible clinical use therapeutic, per AZURE and NSABP-B34 clinical trials. | |Diseases: associated with bone metastases from larger, high-grade breast cancers. Bisphosphonates (Zoledronic acid) possible clinical use therapeutic, per AZURE and NSABP-B34 clinical trials. | ||
|26376684; 34377934; 29037984 | |[https://pubmed.ncbi.nlm.nih.gov/26376684/ 26376684]; [https://pubmed.ncbi.nlm.nih.gov/34377934/ 34377934]; [https://pubmed.ncbi.nlm.nih.gov/29037984/ 29037984] | ||
|- | |- | ||
|''MAML2'' | |''MAML2'' | ||
|1 | |1 | ||
|Gain of function | |Gain of function | ||
|607537 | |[https://omim.org/entry/607537 607537] | ||
|MAML2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MAML2 MAML2] | ||
|MAML2 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=MAML2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MAML2 breast] | ||
|fusion | |fusion | ||
|Diseases: mucoepidermoid carcinoma of the breast | |Diseases: mucoepidermoid carcinoma of the breast | ||
|19200580; 30380176; 32362174; 32550265 | |[https://pubmed.ncbi.nlm.nih.gov/19200580/ 19200580]; [https://pubmed.ncbi.nlm.nih.gov/30380176/ 30380176]; [https://pubmed.ncbi.nlm.nih.gov/32362174/ 32362174]; [https://pubmed.ncbi.nlm.nih.gov/32550265/ 32550265] | ||
|- | |- | ||
|''MAP2K4'' | |''MAP2K4'' | ||
|3 | |3 | ||
|Loss of function | |Loss of function | ||
|601335 | |[https://omim.org/entry/601335 601335] | ||
|MAP2K4 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MAP2K4 MAP2K4] | ||
|MAP2K4 breast | |MAP2K4 breast | ||
|sequence variants, other structural rearrangement | |sequence variants, other structural rearrangement | ||
|Preclinical study suggests sensitivity to MEK and ERK inhibitors | |Preclinical study suggests sensitivity to MEK and ERK inhibitors | ||
|29795445; 31932411 | |[https://pubmed.ncbi.nlm.nih.gov/29795445/ 29795445]; [https://pubmed.ncbi.nlm.nih.gov/31932411/ 31932411] | ||
|- | |- | ||
|''MAP3K1'' | |''MAP3K1'' | ||
|3 | |3 | ||
|Loss of function | |Loss of function | ||
|600982 | |[https://omim.org/entry/600982 600982] | ||
|MAP3K1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MAP3K1 MAP3K1] | ||
|MAP3K1 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=MAP3K1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MAP3K1 breast] | ||
|sequence variants, other structural rearrangement | |sequence variants, other structural rearrangement | ||
|Mutations associated with luminal A subtype BC; potential sensitivity to MEK inhibitors | |Mutations associated with luminal A subtype BC; potential sensitivity to MEK inhibitors | ||
|31552290; 29795445 | |[https://pubmed.ncbi.nlm.nih.gov/31552290/ 31552290]; [https://pubmed.ncbi.nlm.nih.gov/29795445/ 29795445] | ||
|- | |- | ||
|''MDM2'' | |''MDM2'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|164785 | |[https://omim.org/entry/164785 164785] | ||
|MDM2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MDM2 MDM2] | ||
|MDM2 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=MDM2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MDM2 breast] | ||
|amplification | |amplification | ||
|Diagnosis: amplified in 5% (cBioPortal) to 13% (PMID:30237864) breast cancers; TP53 inactivator. Therapies: resistance to chemotherapy and radiotherapy; MDM2 inhibitors in development | |Diagnosis: amplified in 5% (cBioPortal) to 13% (PMID:30237864) breast cancers; TP53 inactivator. Therapies: resistance to chemotherapy and radiotherapy; MDM2 inhibitors in development | ||
|30237864; 31440117; 30551517 | |[https://pubmed.ncbi.nlm.nih.gov/30237864/ 30237864]; [https://pubmed.ncbi.nlm.nih.gov/31440117/ 31440117]; [https://pubmed.ncbi.nlm.nih.gov/30551517/ 30551517] | ||
|- | |- | ||
|''MDM4'' | |''MDM4'' | ||