ArticleJournal of the National Cancer Institute2024
TP53-associated early breast cancer: new observations from a large cohort.
Article in Journal of the National Cancer Institute, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 13 citations in OpenAlex.
- Risk-Reducing Interventions in Women With Pathogenic Variants in Breast Cancer Susceptibility Genes.JCO precision oncology · 2026Article
- Women's health across the reproductive lifespan in women with germline TP53 pathogenic variants: a clinical perspective.The oncologist · 2026Review
- Germline Pathogenic Variants in HER2-Positive Breast Cancer: Spectrum and Clinical Implications in a High-Risk Chinese Cohort.Cancer medicine · 2026Article
- Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.Familial cancer · 2026Review
- Concurrent Germline-Somatic Alterations and Associations with Cancer Outcomes: A Systematic Review of Concurrent Data Use.Research square · 2026Article
- Ectopic CD11c Drives SMAD3-Mediated Aberrant Antigen Presentation and Epithelial-Mesenchymal Transition in Esophageal Squamous Cell Carcinoma.Cancer communications (London, England) · 2026Article
- Bilateral Primary Breast Cancer: Current Evidence and Future Perspectives.Breast cancer (Dove Medical Press) · 2026Review
- Radiotherapy in Li-Fraumeni Syndrome: From Biological Concern to Personalized Clinical Decision-Making.Cureus · 2026Review
- Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.International journal of cancer · 2025Article
- Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.ESMO open · 2025Article
- TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.Journal of the National Cancer Institute · 2025Article
- Adjuvant Radiotherapy and Breast Cancer in Patients with Li-Fraumeni Syndrome: A Critical Review.Cancers · 2025Review
- Unraveling the role of withanolides as key modulators in breast cancer mitigation.Molecular biology reports · 2025Review
- Her2-positive breast cancer in a young patient with Li-Fraumeni syndrome: A comprehensive case study.International journal of surgery case reports · 2024Article
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18 authors at 12 institutions in 5 countries.
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Abstract
backgroundA recent large, well-annotated international cohort of patients with Li-Fraumeni syndrome and early-stage breast cancer was examined for shared features.
methodsThis 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 χ2 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.
resultsAmong 227 women who met study criteria, the median age of first breast cancer diagnosis was 37 years (range = 21-71), 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 months (interquartile range = 32.6-125.9), invasive hormone receptor-positive/HER2-negative disease had the highest recurrence risk among the subtypes (5-year recurrence-free survival = 61.1%, P = .001). Among those who received radiation therapy (n = 79), the 5-year radiation-induced sarcoma rate was 4.8%.
conclusionWe observed high rates of ductal carcinoma in situ, hormone receptor-positive, and HER2-positive breast cancers, with a worse outcome in the hormone receptor-positive/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.
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