ArticleFrontiers in oncology2022
Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by
Article in Frontiers in oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- A clinical report and analysis of metachronous multiple primary cancers occurred in four sites.Journal of cancer research and clinical oncology · 2025Article
- Optimizing shared decision-making for risk-reducing mastectomy in women with Li-Fraumeni syndrome using patient-reported outcome measures.Scientific reports · 2025Article
- Current insights and future directions of Li-Fraumeni syndrome.Discover oncology · 2024Review
- TP53-associated early breast cancer: new observations from a large cohort.Journal of the National Cancer Institute · 2024Article
- Article
- Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne.Cancer medicine · 2024Article
- Clinical Features of Li-Fraumeni Syndrome in Korea.Cancer research and treatment · 2024Article
- The Clinical and Molecular Profile of Lung Cancer Patients Harboring theInternational journal of molecular sciences · 2023Article
- Li-Fraumeni Syndrome: Mutation ofCancers · 2022Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer (BC) is the most prevalent malignancy in women with Li-Fraumeni syndrome (LFS). The literature on BC in LFS is limited due to its rarity worldwide. A Purpose: The aim of the study was to describe the BC phenotype expressed by Brazilian female LFS carriers and compare the data between p.R337H and other Methods: We searched for cases of Results: Among 163 adult female carriers from the registry, 91 (56%) had received a BC diagnosis, including 72 p.R337H carriers. BC was the first cancer diagnosed in 90% of cases. Early onset BC (age ≤45 years) was diagnosed in 78.2% of cases (11.5% <31 years; 66.7% 31-45 years; 21.8% >45 years). The median age of BC diagnosis for p.R337H carriers was 39.5 years (range 20-69 years) compared to 34 years (range 21-63 years) for non-p.R337H carriers (p = 0.009). In total, 104 breast tumors were observed in 87 women. Bilateral BC was observed in 29.3% of cases. Histology was available for 96 tumors, comprising 69 invasive breast carcinomas, which were mostly invasive ductal carcinomas (95.6%), 25 ductal Conclusions: The expressed phenotype of p.R337H is similar to that of other
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