Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|Loss of function | |Loss of function | ||
|[https://omim.org/entry/612778 612778] | |[https://omim.org/entry/612778 612778] | ||
|SETD2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SETD2 SETD2] | ||
|SETD2 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=SETD2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true SETD2 breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: recurrent in phyllodes tumor | |Diseases: recurrent in phyllodes tumor | ||
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|2 | |2 | ||
|Gain of function | |Gain of function | ||
|605590 | |[https://omim.org/entry/605590?search=605590&highlight=605590 605590] | ||
|SF3B1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SF3B1 SF3B1] | ||
|SF3B1 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=SF3B1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true SF3B1 breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: TNBC, ER positive luminal BC, adenoid cystic carcinoma | |Diseases: TNBC, ER positive luminal BC, adenoid cystic carcinoma | ||
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|3 | |3 | ||
|Gain of function | |Gain of function | ||
|603375 | |[https://omim.org/entry/603375?search=603375&highlight=603375 603375] | ||
|SMARCA5 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SMARCA5 SMARCA5] | ||
|SMARCA5 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=SMARCA5&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true SMARCA5 breast] | ||
|sequence variants, other structural rearrangement, altered expression | |sequence variants, other structural rearrangement, altered expression | ||
|Diseases: invasive ductal carcinoma, adenoid cystic carcinoma. SMARCA5 regulates nucleosome repeat length. | |Diseases: invasive ductal carcinoma, adenoid cystic carcinoma. SMARCA5 regulates nucleosome repeat length. | ||
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|2 | |2 | ||
|Loss of function | |Loss of function | ||
|602216 | |[https://omim.org/entry/613484?search=613484&highlight=613484 602216] | ||
|STK11 | |STK11 | ||
|STK11 breast | |STK11 breast | ||