Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|1 | |1 | ||
|Gain of function | |Gain of function | ||
|159405 | |[https://omim.org/entry/159405 159405] | ||
|MYBL1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MYBL1 MYBL1] | ||
|MYBL1 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=MYBL1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MYBL1 breast] | ||
|fusion, other structural rearrangement | |fusion, other structural rearrangement | ||
|Diseases: TNBC, adenoid cystic carcinoma | |Diseases: TNBC, adenoid cystic carcinoma | ||
|29149504; 34599282; [https://pubmed.ncbi.nlm.nih.gov/29149504/ 29410490] | |[https://pubmed.ncbi.nlm.nih.gov/29149504/ 29149504]; [https://pubmed.ncbi.nlm.nih.gov/34599282/ 34599282]; [https://pubmed.ncbi.nlm.nih.gov/29149504/ 29410490] | ||
|- | |- | ||
|''MYC'' | |''MYC'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|190080 | |[https://omim.org/entry/190080 190080] | ||
|MYC | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MYC MYC] | ||
|MYC 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=MYC&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MYC breast] | ||
|amplification, altered expression | |amplification, altered expression | ||
|Diseases: ER positive BC, TNBC, invasive micropapillary carcinoma, postradiation angiosarcoma. Prognostic: Amp is associated with higher grade, increased risk of relapse and mortality; Therapy: hormone resistance; resistance to CDK4/6 inhibitors | |Diseases: ER positive BC, TNBC, invasive micropapillary carcinoma, postradiation angiosarcoma. Prognostic: Amp is associated with higher grade, increased risk of relapse and mortality; Therapy: hormone resistance; resistance to CDK4/6 inhibitors | ||
|22113465; 29180466; 31243099; 30205045; 35005994 | |[https://pubmed.ncbi.nlm.nih.gov/22113465/ 22113465]; [https://pubmed.ncbi.nlm.nih.gov/29180466/ 29180466]; [https://pubmed.ncbi.nlm.nih.gov/31243099/ 31243099]; [https://pubmed.ncbi.nlm.nih.gov/30205045/ 30205045]; [https://pubmed.ncbi.nlm.nih.gov/35005994/ 35005994] | ||
|- | |- | ||
|''NCOR1'' | |''NCOR1'' | ||
|2 | |2 | ||
|Loss of function | |Loss of function | ||
|600849 | |[https://omim.org/entry/600849 600849] | ||
|NCOR1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NCOR1 NCOR1] | ||
|NCOR1 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=NCOR1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NCOR1 breast] | ||
|sequence variants, other structural rearrangement | |sequence variants, other structural rearrangement | ||
|Diseases: ER positive (luminal) BC; metastatic breast cancers | |Diseases: ER positive (luminal) BC; metastatic breast cancers | ||
|31118521; 22722201; 26451490; 30305115;32811538 | |[https://pubmed.ncbi.nlm.nih.gov/31118521/ 31118521]; [https://pubmed.ncbi.nlm.nih.gov/22722201/ 22722201]; [https://pubmed.ncbi.nlm.nih.gov/26451490/ 26451490]; [https://pubmed.ncbi.nlm.nih.gov/30305115/ 30305115]; [https://pubmed.ncbi.nlm.nih.gov/32811538/ 32811538] | ||
|- | |- | ||
|''NECTIN4'' | |''NECTIN4'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|609607 | |[https://omim.org/entry/609607 609607] | ||
|NECTIN4 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NECTIN4 NECTIN4] | ||
|NECTIN4 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=NECTIN4&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NECTIN4 breast] | ||
|amplification, altered expression | |amplification, altered expression | ||
|Therapy: potential marker for off label use of antibody drug conjugate therapy (EV). NECTIN4 encodes a cell adhesion molecule expressed in >50% invasive ductal carcinoma. | |Therapy: potential marker for off label use of antibody drug conjugate therapy (EV). NECTIN4 encodes a cell adhesion molecule expressed in >50% invasive ductal carcinoma. | ||
|38059449 | |[https://pubmed.ncbi.nlm.nih.gov/38059449/ 38059449] | ||
|- | |- | ||
|''NF1'' | |''NF1'' | ||
|2 | |2 | ||
|Other/Complex | |Other/Complex | ||
|613113 | |[https://omim.org/entry/613113 613113] | ||
|NF1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NF1 NF1] | ||
|NF1 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=NF1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NF1 breast] | ||
|sequence variants, other structural rearrangement, amplification | |sequence variants, other structural rearrangement, amplification | ||
|Therapy: endocrine resistance. LoF mutations may be targetable with inhibitors of MAPK pathway components, including MEK inhibitors. Diseases: Metastatic BC. hereditary syndrome with risk for breast & other cancers; risk is primarily associated with missense and nonsense mutations rather than whole gene deletions, suggesting a gain of function mechanism. Risk is modest (odds ratio, 1.76; 95% CI, 0.96 to 3.21 in 2022 NEJM study) | |Therapy: endocrine resistance. LoF mutations may be targetable with inhibitors of MAPK pathway components, including MEK inhibitors. Diseases: Metastatic BC. hereditary syndrome with risk for breast & other cancers; risk is primarily associated with missense and nonsense mutations rather than whole gene deletions, suggesting a gain of function mechanism. Risk is modest (odds ratio, 1.76; 95% CI, 0.96 to 3.21 in 2022 NEJM study) | ||
|33471991; 31591187; 31118521; 30423024; 28637487; 30530636 | |[https://pubmed.ncbi.nlm.nih.gov/33471991/ 33471991]; [https://pubmed.ncbi.nlm.nih.gov/31591187/ 31591187]; [https://pubmed.ncbi.nlm.nih.gov/31118521/ 31118521]; [https://pubmed.ncbi.nlm.nih.gov/30423024/ 30423024]; [https://pubmed.ncbi.nlm.nih.gov/28637487/ 28637487]; [https://pubmed.ncbi.nlm.nih.gov/30530636/ 30530636] | ||
|- | |- | ||
|''NFIB'' | |''NFIB'' | ||
|1 | |1 | ||
|Gain of function | |Gain of function | ||
|600728 | |[https://omim.org/entry/600728 600728] | ||
|NFIB | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=NFIB NFIB] | ||
|NFIB 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=NFIB&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true NFIB breast] | ||
|fusion, rearrangement | |fusion, rearrangement | ||
|Diseases: adenoid cystic carcinoma MYB partner in MYB-NFIB fusion, triple negative BC | |Diseases: adenoid cystic carcinoma MYB partner in MYB-NFIB fusion, triple negative BC | ||
|30350349; 22015727; 19841262; 25217885; 29149504 | |[https://pubmed.ncbi.nlm.nih.gov/30350349/ 30350349]; [https://pubmed.ncbi.nlm.nih.gov/22015727/ 22015727]; [https://pubmed.ncbi.nlm.nih.gov/19841262/ 19841262]; [https://pubmed.ncbi.nlm.nih.gov/25217885/ 25217885]; [https://pubmed.ncbi.nlm.nih.gov/29149504/ 29149504] | ||
|- | |- | ||
|''NOTCH1'' | |''NOTCH1'' | ||