Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|3 | |3 | ||
|Gain of function | |Gain of function | ||
|136430 | |[https://omim.org/entry/136430 136430] | ||
|FOLR1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=FOLR1 FOLR1] | ||
|FOLR1 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=FOLR1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true FOLR1 breast] | ||
|altered expression | |altered expression | ||
|Diseases: ER/PR-negative and triple-negative breast cancers; overexpression associated with higher grade tumors and poor prognosis. Therapy: clinically approved targeted therapy is available for ovarian cancer. Clinical trials ongoing for breast cancer. | |Diseases: ER/PR-negative and triple-negative breast cancers; overexpression associated with higher grade tumors and poor prognosis. Therapy: clinically approved targeted therapy is available for ovarian cancer. Clinical trials ongoing for breast cancer. | ||
|25928305; 24028341; 23961352; 35094917; 37244363 | |[https://pubmed.ncbi.nlm.nih.gov/25928305/ 25928305]; [https://pubmed.ncbi.nlm.nih.gov/24028341/ 24028341]; [https://pubmed.ncbi.nlm.nih.gov/23961352/ 23961352]; [https://pubmed.ncbi.nlm.nih.gov/35094917/ 35094917]; [https://pubmed.ncbi.nlm.nih.gov/37244363/ 37244363] | ||
|- | |- | ||
|''FOXA1'' | |''FOXA1'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|602294 | |[https://omim.org/entry/602294 602294] | ||
|FOXA1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=FOXA1 FOXA1] | ||
|FOXA1 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=FOXA1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true FOXA1 breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Diseases: ER positive BC, Enriched in special subtypes including neuroendocrine tumors, lobular BC. Therapy: associated with endocrine therapy resistance. Expression is associated with Less favorable outcome in non-luminal tumors (unlike in luminal tumors) namely in molecular apocrine tumors that are AR+ | |Diseases: ER positive BC, Enriched in special subtypes including neuroendocrine tumors, lobular BC. Therapy: associated with endocrine therapy resistance. Expression is associated with Less favorable outcome in non-luminal tumors (unlike in luminal tumors) namely in molecular apocrine tumors that are AR+ | ||
|30205045; 26451490; 30205045 | |[https://pubmed.ncbi.nlm.nih.gov/30205045/ 30205045]; [https://pubmed.ncbi.nlm.nih.gov/26451490/ 26451490]; [https://pubmed.ncbi.nlm.nih.gov/30205045/ 30205045] | ||
|- | |- | ||
|''GATA3'' | |''GATA3'' | ||
| Line 662: | Line 662: | ||
|Other/Complex | |Other/Complex | ||
|602294 | |602294 | ||
|GATA3 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GATA3 GATA3] | ||
|GATA3 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=GATA3&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true GATA3 breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: ER positive BC; luminal; endocrine resistant mBC. Frameshift mutations predominate; most mutations impact exons 5 or 6 and impact the second ZF domain or carboxy terminus.Mutations in GATA3 in ctDNA in metastatic cancer is associated with changes in MDM2 pathways and potential vulnerability to MDM2 inhibition. | |Diseases: ER positive BC; luminal; endocrine resistant mBC. Frameshift mutations predominate; most mutations impact exons 5 or 6 and impact the second ZF domain or carboxy terminus.Mutations in GATA3 in ctDNA in metastatic cancer is associated with changes in MDM2 pathways and potential vulnerability to MDM2 inhibition. | ||
|23000897; 29535312; 35653148; 34225008; 40439821 | |[https://pubmed.ncbi.nlm.nih.gov/23000897/ 23000897]; [https://pubmed.ncbi.nlm.nih.gov/29535312/ 29535312]; [https://pubmed.ncbi.nlm.nih.gov/35653148/ 35653148]; [https://pubmed.ncbi.nlm.nih.gov/34225008/ 34225008]; [https://pubmed.ncbi.nlm.nih.gov/40439821/ 40439821] | ||
|- | |- | ||
|''GNAS'' | |''GNAS'' | ||
|3 | |3 | ||
|Gain of function | |Gain of function | ||
|139320 | |[https://omim.org/entry/139320 139320] | ||
|GNAS | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GNAS GNAS] | ||
|GNAS 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=GNAS&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true GNAS breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Disease: Fibrous Dysplasia (hereditary GNAS mut), familial male breast cancers [overexpression results in elevated proliferation and migration]. Mutation in Adenomyoepithelioma, low grade metaplastic carcinoma (fibromatosis like MC and low-grade adenosqumous carcinoma) , Juvenile papillomatosis, mucinous cytadenocarcinoma | |Disease: Fibrous Dysplasia (hereditary GNAS mut), familial male breast cancers [overexpression results in elevated proliferation and migration]. Mutation in Adenomyoepithelioma, low grade metaplastic carcinoma (fibromatosis like MC and low-grade adenosqumous carcinoma) , Juvenile papillomatosis, mucinous cytadenocarcinoma | ||
|28856726; 25490678; 25757876; 32355271; 32127014; 32088208; 40221995 | |[https://pubmed.ncbi.nlm.nih.gov/28856726/ 28856726]; [https://pubmed.ncbi.nlm.nih.gov/25490678/ 25490678]; [https://pubmed.ncbi.nlm.nih.gov/25757876/ 25757876]; [https://pubmed.ncbi.nlm.nih.gov/32355271/ 32355271]; [https://pubmed.ncbi.nlm.nih.gov/32127014/ 32127014]; [https://pubmed.ncbi.nlm.nih.gov/32088208/ 32088208]; [https://pubmed.ncbi.nlm.nih.gov/40221995/ 40221995] | ||
|- | |- | ||
|''GPS2'' | |''GPS2'' | ||
|3 | |3 | ||
|Loss of function | |Loss of function | ||
|601935 | |[https://omim.org/entry/601935 601935] | ||
|GPS2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GPS2 GPS2] | ||
|GPS2 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=GPS2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true GPS2 breast] | ||
|sequence variants, other structural rearrangement | |sequence variants, other structural rearrangement | ||
|Diseases: ER positive (luminal) BC. | |Diseases: ER positive (luminal) BC. | ||
|33490071; 19858209 | |[https://pubmed.ncbi.nlm.nih.gov/33490071/ 33490071]; [https://pubmed.ncbi.nlm.nih.gov/19858209/ 19858209] | ||
|- | |- | ||
|''HGF'' | |''HGF'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|142409 | |[https://omim.org/entry/142409 142409] | ||
|HGF | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=HGF HGF] | ||
|HGF 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=HGF&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true HGF breast] | ||
|amplification, altered expression, sequence variants | |amplification, altered expression, sequence variants | ||
|Diseases: TNBC basal-like subtype. Therapy: activating mutations confer sensitivity to HGF or MET inhibition and are associated with resistance to EGFR family tyrosine kinase inhibitors including trastuzumab. Prognosis: HGF activation is a poor prognostic indicator. | |Diseases: TNBC basal-like subtype. Therapy: activating mutations confer sensitivity to HGF or MET inhibition and are associated with resistance to EGFR family tyrosine kinase inhibitors including trastuzumab. Prognosis: HGF activation is a poor prognostic indicator. | ||
|22850551; 25992381; 34344422 | |[https://pubmed.ncbi.nlm.nih.gov/22850551/ 22850551]; [https://pubmed.ncbi.nlm.nih.gov/25992381/ 25992381]; [https://pubmed.ncbi.nlm.nih.gov/34344422/ 34344422] | ||
|- | |- | ||
|''HRAS'' | |''HRAS'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|190020 | |[https://omim.org/entry/190020 190020] | ||
|HRAS | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=HRAS HRAS] | ||
|HRAS 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=HRAS&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true HRAS breast] | ||
|amplification, sequence variants | |amplification, sequence variants | ||
|Diseases: postradiation angiosarcoma; metaplastic carcinoma; Q61 hotspot mutation in adenomyoepithelioma (ER-negative), may be targatable (MEK inhibitors) | |Diseases: postradiation angiosarcoma; metaplastic carcinoma; Q61 hotspot mutation in adenomyoepithelioma (ER-negative), may be targatable (MEK inhibitors) | ||
|31646390; 29946183; 34496925; 32355271 | |[https://pubmed.ncbi.nlm.nih.gov/31646390/ 31646390]; [https://pubmed.ncbi.nlm.nih.gov/29946183/ 29946183]; [https://pubmed.ncbi.nlm.nih.gov/34496925/ 34496925]; [https://pubmed.ncbi.nlm.nih.gov/32355271/ 32355271] | ||
|- | |- | ||
|''IDH2'' | |''IDH2'' | ||
|1 | |1 | ||
|Gain of function | |Gain of function | ||
|147650 | |[https://omim.org/entry/147650 147650] | ||
|IDH2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=IDH2 IDH2] | ||
|IDH2 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=IDH2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true IDH2 breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: Tall cell carcinoma with reverse polarity / solid papillary carcinoma with reverse polarity. Mutations identified in breast cancers from Arabic descent. Wild type (wt) IDH2 maybe potentially targetable in TNBC. | |Diseases: Tall cell carcinoma with reverse polarity / solid papillary carcinoma with reverse polarity. Mutations identified in breast cancers from Arabic descent. Wild type (wt) IDH2 maybe potentially targetable in TNBC. | ||
|27913435; 29785016; 29603332; 30227763; 31896809; 32322420; 34327780; 38658533 | |[https://pubmed.ncbi.nlm.nih.gov/27913435/ 27913435]; [https://pubmed.ncbi.nlm.nih.gov/29785016/ 29785016]; [https://pubmed.ncbi.nlm.nih.gov/29603332/ 29603332]; [https://pubmed.ncbi.nlm.nih.gov/30227763/ 30227763]; [https://pubmed.ncbi.nlm.nih.gov/31896809/ 31896809]; [https://pubmed.ncbi.nlm.nih.gov/32322420/ 32322420]; [https://pubmed.ncbi.nlm.nih.gov/34327780/ 34327780]; [https://pubmed.ncbi.nlm.nih.gov/38658533/ 38658533] | ||
|- | |- | ||
|''JAK2'' | |''JAK2'' | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|147796 | |[https://omim.org/entry/147796 147796] | ||
|JAK2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=JAK2 JAK2] | ||
|JAK2 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=JAK2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true JAK2 breast] | ||
|sequence variants, amplification | |sequence variants, amplification | ||
|Diseases: enriched in TNBC; Therapy: potential sensitivity to JAK2 inhibitors or Immune checkpoint inhibitors | |Diseases: enriched in TNBC; Therapy: potential sensitivity to JAK2 inhibitors or Immune checkpoint inhibitors | ||
|26317899; 29933930; 30576871; 29761158; 30576871; 34626199 | |[https://pubmed.ncbi.nlm.nih.gov/26317899/ 26317899]; [https://pubmed.ncbi.nlm.nih.gov/29933930/ 29933930]; [https://pubmed.ncbi.nlm.nih.gov/30576871/ 30576871]; [https://pubmed.ncbi.nlm.nih.gov/29761158/ 29761158]; [https://pubmed.ncbi.nlm.nih.gov/30576871/ 30576871]; [https://pubmed.ncbi.nlm.nih.gov/34626199/ 34626199] | ||
|- | |- | ||
|''KDM6A'' | |''KDM6A'' | ||