Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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|2 | |2 | ||
|Gain of function | |Gain of function | ||
|164757 | |[https://omim.org/entry/164757 164757] | ||
|BRAF | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=BRAF BRAF] | ||
|BRAF 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=BRAF&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true BRAF breast] | ||
|sequence variants | |sequence variants | ||
|Diseases: TNBC, adenoid cystic carcinoma; Therapy: BRAF, MEK inhibitors. | |Diseases: TNBC, adenoid cystic carcinoma; Therapy: BRAF, MEK inhibitors. | ||
|26095796; 27135926; 32206360; 34818649; 36531075 | |[https://pubmed.ncbi.nlm.nih.gov/26095796/ 26095796]; [https://pubmed.ncbi.nlm.nih.gov/27135926/ 27135926]; [https://pubmed.ncbi.nlm.nih.gov/32206360/ 32206360]; [https://pubmed.ncbi.nlm.nih.gov/34818649/ 34818649]; [https://pubmed.ncbi.nlm.nih.gov/36531075/ 36531075] | ||
|- | |- | ||
|''BRCA1'' | |''BRCA1'' | ||
|1 | |1 | ||
|Loss of function | |Loss of function | ||
|113705 | |[https://omim.org/entry/113705 113705] | ||
|BRCA1 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=BRCA1 BRCA1] | ||
|BRCA1 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=BRCA1&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true BRCA1 breast] | ||
|sequence variants, epigenetic modification, other structural rearrangement | |sequence variants, epigenetic modification, other structural rearrangement | ||
|Diseases: hereditary BC (high penetrance); TNBC; ovarian, other cancers. Associated with tandem duplicator phenotype, HRD. Therapy: PARP inhibitors, Prediction: reversion mutations in cfDNA resistant to PARP inhibitors. | |Diseases: hereditary BC (high penetrance); TNBC; ovarian, other cancers. Associated with tandem duplicator phenotype, HRD. Therapy: PARP inhibitors, Prediction: reversion mutations in cfDNA resistant to PARP inhibitors. | ||
|20301425; 33471991; 28578601; 31421928; 28765325; 30110579 | |[https://pubmed.ncbi.nlm.nih.gov/20301425/ 20301425]; [https://pubmed.ncbi.nlm.nih.gov/33471991/ 33471991]; [https://pubmed.ncbi.nlm.nih.gov/28578601/ 28578601]; [https://pubmed.ncbi.nlm.nih.gov/31421928/ 31421928]; [https://pubmed.ncbi.nlm.nih.gov/28765325/ 28765325]; [https://pubmed.ncbi.nlm.nih.gov/30110579/ 30110579] | ||
|- | |- | ||
|''BRCA2'' | |''BRCA2'' | ||
|1 | |1 | ||
|Loss of function | |Loss of function | ||
|600185 | |[https://omim.org/entry/600185 600185] | ||
|BRCA2 | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=BRCA2 BRCA2] | ||
|BRCA2 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=BRCA2&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true BRCA2 breast] | ||
|sequence variants, other structural rearrangement | |sequence variants, other structural rearrangement | ||
|Diseases: hereditary BC (high penetrance); ER positive BC; ovarian & other cancers, HRD. Therapy: PARP inhibitors; Prediction: reversion mutations in cfDNA resistant to PARP inhibitors. | |Diseases: hereditary BC (high penetrance); ER positive BC; ovarian & other cancers, HRD. Therapy: PARP inhibitors; Prediction: reversion mutations in cfDNA resistant to PARP inhibitors. | ||
|20301425; 33471991; 28578601; 31421928; 28765325; 30110579 | |[https://pubmed.ncbi.nlm.nih.gov/20301425/ 20301425]; [https://pubmed.ncbi.nlm.nih.gov/33471991/ 33471991]; [https://pubmed.ncbi.nlm.nih.gov/28578601/ 28578601]; [https://pubmed.ncbi.nlm.nih.gov/31421928/ 31421928]; [https://pubmed.ncbi.nlm.nih.gov/28765325/ 28765325]; [https://pubmed.ncbi.nlm.nih.gov/30110579/ 30110579] | ||
|- | |- | ||
|''BRIP1'' | |''BRIP1'' | ||