{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T15:40:20Z","timestamp":1791906020305,"version":"4.3.4"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5R01CA242218"],"award-info":[{"award-number":["5R01CA242218"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP177524"],"award-info":[{"award-number":["APP177524"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001026","name":"National Breast Cancer Foundation","doi-asserted-by":"publisher","award":["IIRS-21-102"],"award-info":[{"award-number":["IIRS-21-102"]}],"id":[{"id":"10.13039\/501100001026","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>A recent large, well-annotated international cohort of patients with Li-Fraumeni syndrome and early-stage breast cancer was examined for shared features.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This multicenter cohort study included women with a germline TP53 pathogenic or likely pathogenic variant and nonmetastatic breast cancer diagnosed between 2002 and 2022. Clinical and genetic data were obtained from institutional registries and clinical charts. Descriptive statistics were used to summarize proportions, and differences were assessed using \u03c72 or Wilcoxon rank sum tests. Metachronous contralateral breast cancer risk, radiation-induced sarcoma risk, and recurrence-free survival were analyzed using the Kaplan-Meier methodology.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Among 227 women who met study criteria, the median age of first breast cancer diagnosis was 37\u2009years (range\u2009=\u200921-71), 11.9% presented with bilateral synchronous breast cancer, and 18.1% had ductal carcinoma in situ only. In total, 166 (73.1%) patients underwent mastectomies, including 67 bilateral mastectomies as first breast cancer surgery. Among those patients with retained breast tissue, the contralateral breast cancer rate was 25.3% at 5 years. Among 186 invasive tumors, 72.1% were stages I to II, 48.9% were node negative, and the most common subtypes were hormone receptor-positive\/HER2-negative (40.9%) and hormone receptor positive\/HER2 positive (34.4%). At a median follow-up of 69.9\u2009months (interquartile range\u2009=\u200932.6-125.9), invasive hormone receptor\u2013positive\/HER2-negative disease had the highest recurrence risk among the subtypes (5-year recurrence-free survival\u2009=\u200961.1%, P\u2009=\u2009.001). Among those who received radiation therapy (n\u2009=\u200979), the 5-year radiation-induced sarcoma rate was 4.8%.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We observed high rates of ductal carcinoma in situ, hormone receptor\u2013positive, and HER2-positive breast cancers, with a worse outcome in the hormone receptor\u2013positive\/HER2-negative luminal tumors, despite appropriate treatment. Confirmation of these findings in further studies could have implications for breast cancer care in those with Li-Fraumeni syndrome.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/jnci\/djae074","type":"journal-article","created":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T01:14:30Z","timestamp":1712193270000},"page":"1246-1254","source":"Crossref","is-referenced-by-count":20,"title":["<i>TP53<\/i>-associated early breast cancer: new observations from a large cohort"],"prefix":"10.1093","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8446-3675","authenticated-orcid":false,"given":"Renata L","family":"Sandoval","sequence":"first","affiliation":[{"name":"Medical Oncology Center, Hospital S\u00edrio-Liban\u00eas , Bras\u00edlia, DF, Brazil"},{"name":"Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute , Boston, MA, 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Cancer Institute , Boston, MA, USA"},{"name":"Medical Oncology, Dana-Farber Cancer Institute , Boston, MA, USA"},{"name":"Breast Oncology Program, Dana-Farber Brigham Cancer Center , Boston, MA"},{"name":"Harvard Medical School , Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Verret","sequence":"additional","affiliation":[{"name":"Medical Oncology Department, Gustave Roussy Cancer Campus, INERM U981, Universit\u00e9 Paris Saclay , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Gennari","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, University of Piemonte Orientale , Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Cahill","sequence":"additional","affiliation":[{"name":"Department of Data Science, Dana-Farber Cancer Institute , Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel","family":"Achatz","sequence":"additional","affiliation":[{"name":"Medical Oncology Center, Hospital S\u00edrio-Liban\u00eas , S\u00e3o Paulo, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Caron","sequence":"additional","affiliation":[{"name":"Medical Oncology Department, Institut Gustave Roussy , Villejuif, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Imbert-Bouteille","sequence":"additional","affiliation":[{"name":"Oncology Department, Institut of Cancer of Montpellier , Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Nogu\u00e8s","sequence":"additional","affiliation":[{"name":"Cancer Risk Management Department, Clinical Oncogenetics, Institut Paoli-Calmettes , Marseille, France"},{"name":"Aix Marseille Universit\u00e9, INSERM, IRD, SESSTIM , Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kara N","family":"Mawell","sequence":"additional","affiliation":[{"name":"Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1970-9912","authenticated-orcid":false,"given":"Cristina","family":"Fortuno","sequence":"additional","affiliation":[{"name":"Population Health Program, QIMR Berghofer Medical Research Institute , Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda B","family":"Spurdle","sequence":"additional","affiliation":[{"name":"Population Health Program, QIMR Berghofer Medical Research Institute , Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabihah","family":"Tayob","sequence":"additional","affiliation":[{"name":"Department of Data Science, 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