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MDM2 is an E3 ubiquitin ligase that targets p53 for degradation, and pre-clinical data suggests MDM2 inhibition may effectively treat <jats:italic>GATA3<\/jats:italic>\n              <jats:sup>mut<\/jats:sup> HR+\u2009BC. The <jats:italic>GATA3<\/jats:italic> co-mutational landscape has been described only in primary BC tissue, and the mechanism of MDM2-driven efficacy is incompletely understood.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Experimental design<\/jats:title>\n            <jats:p>Circulating tumor DNA (ctDNA) was assessed for <jats:italic>GATA3<\/jats:italic> mutations via targeted sequencing. Associations with co-alterations and clinical\/pathologic factors were estimated using Pearson's chi-squared test, two-sample Wilcoxon rank-sum, and multivariable logistic regression. Impact on survival was analyzed using multivariable Cox regression analysis. Tissue-based data from the Clinical Proteomic Tumor Analysis Consortium (CPTAC) database was evaluated for expression and phosphorylation of GATA3 and associated proteins.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Among 609 patients with HR\u2009+\u2009\/HER2\u2212 MBC, ctDNA\u00a0detected non-synonymous <jats:italic>GATA3<\/jats:italic> variants ctDNA in 69 (11%) patients, and the genomic landscape was unique from tissue-based primary BC data; <jats:italic>GATA3<\/jats:italic>\n              <jats:sup>mut<\/jats:sup> were not mutually exclusive from <jats:italic>TP53<\/jats:italic>\n              <jats:sup>mut<\/jats:sup> (<jats:italic>p<\/jats:italic>\u2009=\u20090.30) or <jats:italic>PIK3CA<\/jats:italic>\n              <jats:sup>mut<\/jats:sup> (<jats:italic>p<\/jats:italic>\u2009=\u20090.52) and were associated with poorer survival on endocrine monotherapy. CPTAC analysis showed no difference in <jats:italic>GATA3<\/jats:italic> or breast cancer-associated gene abundance, however there was increased USP48 (LogFC\u2009=\u20090.76, FDR\u2009=\u20091.7\u2009\u00d7\u200910<jats:sup>\u20135<\/jats:sup>), which stabilizes MDM2.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The distinct landscape in <jats:italic>GATA3<\/jats:italic>\n              <jats:sup>mut<\/jats:sup> MBC ctDNA highlights critical information when assessing candidacy for targeted therapies. To our knowledge, this is the first ctDNA-based <jats:italic>GATA3<\/jats:italic>\n              <jats:sup>mut<\/jats:sup> landscape analysis in MBC. Furthermore, tissue-based proteomic analysis suggests mechanisms for endocrine resistance and sensitivity to MDM2 inhibition in HR+\u2009\/HER2\u2212 <jats:italic>GATA3<\/jats:italic>\n              <jats:sup>mut<\/jats:sup> BC.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s10549-025-07710-w","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T14:12:55Z","timestamp":1748527975000},"page":"437-447","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genomic and proteomic profiling of GATA3 mutant metastatic hormone receptor-positive breast cancer and impact on clinical outcomes"],"prefix":"10.1007","volume":"212","author":[{"given":"Arielle J.","family":"Medford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marko","family":"Velimirovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifat","family":"Gefen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrzej","family":"Niemierko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Gerratana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Clifton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Keenan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Podany","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitney L.","family":"Hensing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Reduzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles S.","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesli A.","family":"Kiedrowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura M.","family":"Spring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leif W.","family":"Ellisen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert C.","family":"Doebele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Cristofanilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gad","family":"Getz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditya","family":"Bardia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,5,29]]},"reference":[{"key":"7710_CR1","doi-asserted-by":"publisher","first-page":"7","DOI":"10.3322\/caac.21708","volume":"72","author":"RL Siegel","year":"2022","unstructured":"Siegel RL, Miller KD, Fuchs HE, Jemal A (2022) Cancer statistics, 2022. 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The content is solely the responsibility of the authors and does not necessarily represent the official views of the American Society of Clinical Oncology or the National Institutes of Health. AJM reports personal fees from AstraZeneca, Edgewood Oncology, Guardant Health, Illumina, Myriad Genetics, Natera, Novartis, and research funding from AstraZeneca. LG reports personal fees from Novartis, Eli Lilly, AstraZeneca, Incyte and GlaxoSmithKline. LG reports research funding to the institution from AstraZeneca. AAD reports personal fees from Pfizer and bioTheranostics. WLH reports personal fees from Novartis and Gilead. LMS declares the following relationships: Consultant\/advisory board: Novartis, Daiichi Pharma, Astra Zeneca, Eli Lilly, Precede, Seagen; Institutional research support: Merck, Genentech, Gilead, Eli Lilly. LWE reports personal fees from Mersana, KisoJi Biotechnology, Gilead Sciences. RCD is an employee and shareholder of Rain Oncology. MC reports personal fees from Lily, Menarini, Polaris, AstraZeneca\/Daiichi Sankyo, Syantra, Sermonix Pharmaceuticals, Celcuity, Pfizer, and research funding from Lilly, Angle, Merck, AstraZeneca, and Menarini Silicon Biosystems. AB reports personal fees from Novartis, Genentech, Pfizer, Merck, Novartis, Genentech\/Roche, Radius, Innocrin, Sanofi, AstraZeneca\/Daiichi Sankyo, Lilly, Gilead Sciences, Menarini, and Mersana and research funding from Genentech, Novartis, Pfizer, Merck, Sanofi, Radius Health, Immunomedics, and AstraZeneca\/Daiichi Sankyo. All other authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}