Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|2 | |2 | ||
|Gain of function | |Gain of function | ||
|605435 | |[https://omim.org/entry/605435 605435] | ||
|PRKD1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PRKD1 PRKD1] | ||
|PRKD1 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=PRKD1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true PRKD1 breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: TNBC, adenoid cystic carcinoma, ER positive BC. Prognosis: increased gene expression associated with reduced disease free survival (especially in TNBC). Therapy: emerging target (siRNA, miRNA). | |Diseases: TNBC, adenoid cystic carcinoma, ER positive BC. Prognosis: increased gene expression associated with reduced disease free survival (especially in TNBC). Therapy: emerging target (siRNA, miRNA). | ||
|26895471; 29796183; 31676574 | |[https://pubmed.ncbi.nlm.nih.gov/26895471/ 26895471]; [https://pubmed.ncbi.nlm.nih.gov/29796183/ 29796183]; [https://pubmed.ncbi.nlm.nih.gov/31676574/ 31676574] | ||
|- | |- | ||
|''PTEN'' | |''PTEN'' | ||
|1 | |1 | ||
|Loss of function | |Loss of function | ||
|601728 | |[https://omim.org/entry/601728 601728] | ||
|PTEN | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PTEN PTEN] | ||
|PTEN 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=PTEN&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true PTEN breast] | ||
|sequence variants, other structural rearrangement, epigenetic modification | |sequence variants, other structural rearrangement, epigenetic modification | ||
|Therapy: AKT inhibitor therapy capivasertib, resistance to trastuzumab (HER2 targeted therapy), increased sensitivity to AKT and mTOR inhibitors; Diseases: hereditary syndromic risk for breast and other cancers (high penetrance); lobular BC, TNBC. Majority (>99%) PTEN mutations detected in tumors are somatic not germline. Prognosis: higher risk of recurrence. | |Therapy: AKT inhibitor therapy capivasertib, resistance to trastuzumab (HER2 targeted therapy), increased sensitivity to AKT and mTOR inhibitors; Diseases: hereditary syndromic risk for breast and other cancers (high penetrance); lobular BC, TNBC. Majority (>99%) PTEN mutations detected in tumors are somatic not germline. Prognosis: higher risk of recurrence. | ||
|33471991; 29902286; 15324695; 32864625; 37256976; 30504931 | |[https://pubmed.ncbi.nlm.nih.gov/33471991/ 33471991]; [https://pubmed.ncbi.nlm.nih.gov/29902286/ 29902286]; [https://pubmed.ncbi.nlm.nih.gov/15324695/ 15324695]; [https://pubmed.ncbi.nlm.nih.gov/32864625/ 32864625]; [https://pubmed.ncbi.nlm.nih.gov/37256976/ 37256976]; [https://pubmed.ncbi.nlm.nih.gov/30504931/ 30504931] | ||
|- | |- | ||
|''PTPRB'' | |''PTPRB'' | ||
|3 | |3 | ||
|Gain of function | |Gain of function | ||
|176882 | |[https://omim.org/entry/176882 176882] | ||
|PTPRB | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PTPRB PTPRB] | ||
|PTPRB 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=PTPRB&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true PTPRB breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: postradiation angiosarcoma; Function: angiogenesis | |Diseases: postradiation angiosarcoma; Function: angiogenesis | ||
|24633157; | |[https://pubmed.ncbi.nlm.nih.gov/24633157/ 24633157]; | ||
|- | |- | ||
|''PTPRD'' | |''PTPRD'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|601598 | |[https://omim.org/entry/601598 601598] | ||
|PTPRD | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PTPRD PTPRD] | ||
|PTPRD 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=PTPRD&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true PTPRD breast] | ||
|sequence variants, other structural rearrangement, epigenetic modification | |sequence variants, other structural rearrangement, epigenetic modification | ||
|Tumor suppressor gene loss of function alterations in 4% breast cancer | |Tumor suppressor gene loss of function alterations in 4% breast cancer | ||
|18507500; 19478061; 22722201 | |[https://pubmed.ncbi.nlm.nih.gov/18507500/ 18507500]; [https://pubmed.ncbi.nlm.nih.gov/19478061/ 19478061]; [https://pubmed.ncbi.nlm.nih.gov/22722201/ 22722201] | ||
|- | |- | ||
|''RAD50'' | |''RAD50'' | ||
|3 | |3 | ||
|Loss of function | |Loss of function | ||
|604040 | |[https://omim.org/entry/604040 604040] | ||
|RAD50 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RAD50 RAD50] | ||
|RAD50 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=RAD50&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RAD50 breast] | ||
|sequence alteration, other structural rearrangement | |sequence alteration, other structural rearrangement | ||
|Diseases: limited evidence for hereditary BC (how often sporadic?) | |Diseases: limited evidence for hereditary BC (how often sporadic?) | ||
|30504931; 34782604 | |[https://pubmed.ncbi.nlm.nih.gov/30504931/ 30504931]; [https://pubmed.ncbi.nlm.nih.gov/34782604/ 34782604] | ||
|- | |- | ||
|''RAD51C'' | |''RAD51C'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|602774 | |[https://omim.org/entry/602774 602774] | ||
|RAD51C | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RAD51C RAD51C] | ||
|RAD51C 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=RAD51C&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RAD51C breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: Slight increased risk for hereditary BC, primarily ER-negative (odds ratio, 1.93; 95% CI, 1.20 to 3.11 in NEJM 2022 study) | |Diseases: Slight increased risk for hereditary BC, primarily ER-negative (odds ratio, 1.93; 95% CI, 1.20 to 3.11 in NEJM 2022 study) | ||
|33471991; 33471974; 21980511; 22167183; 35039523; 30504931 | |[https://pubmed.ncbi.nlm.nih.gov/33471991/ 33471991]; [https://pubmed.ncbi.nlm.nih.gov/33471974/ 33471974]; [https://pubmed.ncbi.nlm.nih.gov/21980511/ 21980511]; [https://pubmed.ncbi.nlm.nih.gov/22167183/ 22167183]; [https://pubmed.ncbi.nlm.nih.gov/35039523/ 35039523]; [https://pubmed.ncbi.nlm.nih.gov/30504931/ 30504931] | ||
|- | |- | ||
|''RAD51D'' | |''RAD51D'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|602954 | |[https://omim.org/entry/602954 602954] | ||
|RAD51D | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RAD51D RAD51D] | ||
|RAD51D 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=RAD51D&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RAD51D breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: Slight increased risk for hereditary BC, primarily ER-negative (odds ratio, 1.80; 95% CI, 1.11 to 2.93 in NEJM 2022 study) | |Diseases: Slight increased risk for hereditary BC, primarily ER-negative (odds ratio, 1.80; 95% CI, 1.11 to 2.93 in NEJM 2022 study) | ||
|33471991; 33471974; 30504931 | |[https://pubmed.ncbi.nlm.nih.gov/33471991/ 33471991]; [https://pubmed.ncbi.nlm.nih.gov/33471974/ 33471974]; [https://pubmed.ncbi.nlm.nih.gov/30504931/ 30504931] | ||
|- | |- | ||
|''RB1'' | |''RB1'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|614041 | |[https://omim.org/entry/614041 614041] | ||
|RB1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RB1 RB1] | ||
|RB1 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=RB1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RB1 breast] | ||
|sequence variants, other structural rearrangement | |sequence variants, other structural rearrangement | ||
|Therapy: acquired hormone resistance; resistance to CDK4/6 inhibitors. Diseases: TNBC, metastatic BC | |Therapy: acquired hormone resistance; resistance to CDK4/6 inhibitors. Diseases: TNBC, metastatic BC | ||
|31118521; 28027327; 27135926; 29236940; 35005994 | |[https://pubmed.ncbi.nlm.nih.gov/31118521/ 31118521]; [https://pubmed.ncbi.nlm.nih.gov/28027327/ 28027327]; [https://pubmed.ncbi.nlm.nih.gov/27135926/ 27135926]; [https://pubmed.ncbi.nlm.nih.gov/29236940/ 29236940]; [https://pubmed.ncbi.nlm.nih.gov/35005994/ 35005994] | ||
|- | |- | ||
|''RECQL'' | |''RECQL'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|600537 | |[https://omim.org/entry/600537 600537] | ||
|RECQL | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RECQL RECQL] | ||
|RECQL 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=RECQL&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RECQL breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: moderate evidence for BC risk. | |Diseases: moderate evidence for BC risk. | ||
|30504931 | |[https://pubmed.ncbi.nlm.nih.gov/30504931/ 30504931] | ||
|- | |- | ||
|''RET'' | |''RET'' | ||
|1 | |1 | ||
|Gain of function | |Gain of function | ||
|164761 | |[https://omim.org/entry/164761 164761] | ||
|RET | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RET RET] | ||
|RET 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=RET&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RET breast] | ||
|fusion, amplification, altered expression | |fusion, amplification, altered expression | ||
|Therapy: FDA approved for RET fusion; overexpression associated with endocrine resistance. Diseases: ER-positive BC | |Therapy: FDA approved for RET fusion; overexpression associated with endocrine resistance. Diseases: ER-positive BC | ||
|30446652; 24559440; 24526731; 23650283 | |[https://pubmed.ncbi.nlm.nih.gov/30446652/ 30446652]; [https://pubmed.ncbi.nlm.nih.gov/24559440/ 24559440]; [https://pubmed.ncbi.nlm.nih.gov/24526731/ 24526731]; [https://pubmed.ncbi.nlm.nih.gov/23650283/ 23650283] | ||
|- | |- | ||
|''RICTOR'' | |''RICTOR'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|609022 | |[https://omim.org/entry/609022 609022] | ||
|RICTOR | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RICTOR RICTOR] | ||
|RICTOR 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=RICTOR&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RICTOR breast] | ||
|amplification, altered expression | |amplification, altered expression | ||
|Therapy: possibly targetable with mTOR inhibitors; Diseases: TNBC | |Therapy: possibly targetable with mTOR inhibitors; Diseases: TNBC | ||
|29790419; 32819718 | |[https://pubmed.ncbi.nlm.nih.gov/29790419/ 29790419]; [https://pubmed.ncbi.nlm.nih.gov/32819718/ 32819718] | ||
|- | |- | ||
|''RPS6KB1'' | |''RPS6KB1'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|608938 | |[https://omim.org/entry/608938 608938] | ||
|RPS6KB1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RPS6KB1 RPS6KB1] | ||
|RPS6KB1 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=RPS6KB1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RPS6KB1 breast] | ||
|amplification, altered expression | |amplification, altered expression | ||
|Therapy: amplification or overexpression may predict sensitivity to inhibitors of p70S6K signaling, as well as to inhibitors of upstream signaling, including mTOR and PI3K. Overexpression linked with resistance to radiation treatment. | |Therapy: amplification or overexpression may predict sensitivity to inhibitors of p70S6K signaling, as well as to inhibitors of upstream signaling, including mTOR and PI3K. Overexpression linked with resistance to radiation treatment. | ||
|31959810; 20953835 | |[https://pubmed.ncbi.nlm.nih.gov/31959810/ 31959810]; [https://pubmed.ncbi.nlm.nih.gov/20953835/ 20953835] | ||
|- | |- | ||
|''RUNX1'' | |''RUNX1'' | ||
|3 | |3 | ||
|Other/Complex | |Other/Complex | ||
|151385 | |[https://omim.org/entry/151385 151385] | ||
|RUNX1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RUNX1 RUNX1] | ||
|RUNX1 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=RUNX1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RUNX1 breast] | ||
|sequence variants, altered expression, other structural rearrangement | |sequence variants, altered expression, other structural rearrangement | ||
|Diseases: Lobular BC, ER positive luminal BC (tumor suppressor), TNBC (oncogenic via overexpression). Prognosis: higher expression predictive of decreased survival. | |Diseases: Lobular BC, ER positive luminal BC (tumor suppressor), TNBC (oncogenic via overexpression). Prognosis: higher expression predictive of decreased survival. | ||
|28455962; 29581836; 22722202 | |[https://pubmed.ncbi.nlm.nih.gov/28455962/ 28455962]; [https://pubmed.ncbi.nlm.nih.gov/29581836/ 29581836]; [https://pubmed.ncbi.nlm.nih.gov/22722202/ 22722202] | ||
|- | |- | ||
|''RUNX3'' | |''RUNX3'' | ||
|3 | |3 | ||
|Loss of function | |Loss of function | ||
|600210 | |[https://omim.org/entry/600210 600210] | ||
|RUNX3 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RUNX3 RUNX3] | ||
|RUNX3 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=RUNX3&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true RUNX3 breast] | ||
|altered expression, epigenetic modification, other structural rearrangement, sequence variants | |altered expression, epigenetic modification, other structural rearrangement, sequence variants | ||
|Prognosis: poor survival, correlates with recurrence. RUNX3 functions to inhibit YAP-mediated migration and stemness in breast cancer, together with RUNX1 | |Prognosis: poor survival, correlates with recurrence. RUNX3 functions to inhibit YAP-mediated migration and stemness in breast cancer, together with RUNX1 | ||
|28455962; 29581836; 22722202; 22275124; 37420018 | |[https://pubmed.ncbi.nlm.nih.gov/28455962/ 28455962]; [https://pubmed.ncbi.nlm.nih.gov/29581836/ 29581836]; [https://pubmed.ncbi.nlm.nih.gov/22722202/ 22722202]; [https://pubmed.ncbi.nlm.nih.gov/22275124/ 22275124]; [https://pubmed.ncbi.nlm.nih.gov/37420018/ 37420018] | ||
|- | |- | ||
|''SETD2'' | |''SETD2'' | ||