Compendium of Cancer Genome Aberrations

Breast Cancer: Recurrent Genomic Alterations: Difference between revisions

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|2
|2
|Gain of function
|Gain of function
|602704
|[https://omim.org/entry/602704 602704]
|MDM4
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MDM4 MDM4]
|MDM4 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=MDM4&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MDM4 breast]
|amplification
|amplification
|Diseases: Inflammatory BC, potential therapeutic target
|Diseases: Inflammatory BC, potential therapeutic target
|33007869
|[https://pubmed.ncbi.nlm.nih.gov/33007869/ 33007869]
|-
|-
|''MED12''
|''MED12''
|2
|2
|Gain of function
|Gain of function
|300188
|[https://omim.org/entry/300188 300188]
|MED12
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MED12 MED12]
|MED12 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=MED12&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MED12 breast]
|sequence variants
|sequence variants
|Diseases: fibroadenoma, juvenile fibroadenoma, phyllodes tumor
|Diseases: fibroadenoma, juvenile fibroadenoma, phyllodes tumor
|26437033; 26860948; 29043292; 29315289; 28688536; 31662438; 33376197; 25865354; 34505197
|[https://pubmed.ncbi.nlm.nih.gov/26437033/ 26437033]; [https://pubmed.ncbi.nlm.nih.gov/26860948/ 26860948]; [https://pubmed.ncbi.nlm.nih.gov/29043292/ 29043292]; [https://pubmed.ncbi.nlm.nih.gov/29315289/ 29315289]; [https://pubmed.ncbi.nlm.nih.gov/28688536/ 28688536]; [https://pubmed.ncbi.nlm.nih.gov/31662438/ 31662438]; [https://pubmed.ncbi.nlm.nih.gov/33376197/ 33376197]; [https://pubmed.ncbi.nlm.nih.gov/25865354/ 25865354]; [https://pubmed.ncbi.nlm.nih.gov/34505197/ 34505197]
|-
|-
|''MIB1''
|''MIB1''
|2
|2
|Other/Complex
|Other/Complex
|608677
|[https://omim.org/entry/608677 608677]
|MIB1
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MIB1 MIB1]
|MIB1 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=MIB1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MIB1 breast]
|altered expression
|altered expression
|Diagnosis: Ki67 (MIB1 protein product) expression usually performed with ER, PR, and HER2 on a diagnostic biopsy. Therapy: Ki-67 >10% at 2 weeks after initiating endocrine therapy suggests a possible need for additional chemotherapy (POETIC trial). Prognosis: Ki-67 >10% correlates with poorer survival. Magee Equations can be used as a surrogate for Oncotype Dx to predict recurrence (<nowiki>https://path.upmc.edu/onlineTools/mageeequations.html</nowiki>).
|Diagnosis: Ki67 (MIB1 protein product) expression usually performed with ER, PR, and HER2 on a diagnostic biopsy. Therapy: Ki-67 >10% at 2 weeks after initiating endocrine therapy suggests a possible need for additional chemotherapy (POETIC trial). Prognosis: Ki-67 >10% correlates with poorer survival. Magee Equations can be used as a surrogate for Oncotype Dx to predict recurrence (<nowiki>https://path.upmc.edu/onlineTools/mageeequations.html</nowiki>).
|33152284; 36096872; 36165933
|[https://pubmed.ncbi.nlm.nih.gov/33152284/ 33152284]; [https://pubmed.ncbi.nlm.nih.gov/36096872/ 36096872]; [https://pubmed.ncbi.nlm.nih.gov/36165933/ 36165933]
|-
|-
|''MSH6''
|''MSH6''
|2
|2
|Loss of function
|Loss of function
|600678
|[https://omim.org/entry/600678 600678]
|MSH6
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MSH6 MSH6]
|MSH6 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=MSH6&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MSH6 breast]
|sequence variants, altered expression
|sequence variants, altered expression
|Hereditary: Slightly increased risk of breast cancer (odds ratio, 1.96; 95% CI, 1.15 to 3.33 in 2022 NEJM study)
|Hereditary: Slightly increased risk of breast cancer (odds ratio, 1.96; 95% CI, 1.15 to 3.33 in 2022 NEJM study)
|33471991
|[https://pubmed.ncbi.nlm.nih.gov/33471991/ 33471991]
|-
|-
|''MTOR''
|''MTOR''
|2
|2
|Gain of function
|Gain of function
|601231
|[https://omim.org/entry/601231 601231]
|MTOR
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MTOR MTOR]
|MTOR 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=MTOR&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MTOR breast]
|sequence variants
|sequence variants
|Diseases: TNBC, acinic cell carcinoma, [adenoid cystic carcinoma??]
|Diseases: TNBC, acinic cell carcinoma, [adenoid cystic carcinoma??]
|26011570; 29417298; 31408724;20190810;28400999;
|[https://pubmed.ncbi.nlm.nih.gov/26011570/ 26011570]; [https://pubmed.ncbi.nlm.nih.gov/29417298/ 29417298]; [https://pubmed.ncbi.nlm.nih.gov/31408724/ 31408724]; [https://pubmed.ncbi.nlm.nih.gov/20190810/ 20190810]; [https://pubmed.ncbi.nlm.nih.gov/28400999/ 28400999];
|-
|-
|''MYB''
|''MYB''
|1
|1
|Gain of function
|Gain of function
|189990
|[https://omim.org/entry/189990 189990]
|MYB
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MYB MYB]
|MYB 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=MYB&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true MYB breast]
|fusion, other structural rearrangement, amplification
|fusion, other structural rearrangement, amplification
|Diseases: Adenoid cystic carcinoma (''MYB''::''NFIB'' is most common fusion)
|Diseases: Adenoid cystic carcinoma (''MYB''::''NFIB'' is most common fusion)
|19841262; 26095796; 29149504
|[https://pubmed.ncbi.nlm.nih.gov/19841262/ 19841262]; [https://pubmed.ncbi.nlm.nih.gov/26095796/ 26095796]; [https://pubmed.ncbi.nlm.nih.gov/29149504/ 29149504]
|-
|-
|''MYBL1''
|''MYBL1''
Line 916: Line 916:
|fusion, other structural rearrangement
|fusion, other structural rearrangement
|Diseases: TNBC, adenoid cystic carcinoma
|Diseases: TNBC, adenoid cystic carcinoma
|29149504; 34599282; 29410490
|29149504; 34599282; [https://pubmed.ncbi.nlm.nih.gov/29149504/ 29410490]
|-
|-
|''MYC''
|''MYC''
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