ReviewBreast cancer research and treatment2018
Clinical implications of germline mutations in breast cancer: TP53.
Review in Breast cancer research and treatment, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
81 citing papers in PubMed, 3 syntheses or guidelines pooled it, 152 citations in OpenAlex.
- Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.European journal of human genetics : EJHG · 2025Pooled it
- SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Guideline
- Association between TP53 gene codon72 polymorphism and prostate cancer risk: A systematic review and meta-analysis.Medicine · 2019Pooled it
- [Hereditary breast cancer : Syndromes, pathology, clinical aspects].Pathologie (Heidelberg, Germany) · 2026Review
- The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer.Cell death discovery · 2026Review
- The impact of AI on modern oncology from early detection to personalized cancer treatment.NPJ precision oncology · 2026Review
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- Integrative PANoptosis-focused omics analysis uncovers GSDMC as a candidate biomarker in breast cancer.Frontiers in cell and developmental biology · 2026Article
- Translating genomic insights into therapy: an NGS-based mutation profiling study in breast cancer.Medical oncology (Northwood, London, England) · 2025Article
- Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.Journal of medical genetics · 2025Article
- Genomic landscape of cancer driver genes in Omani breast cancers: a pilot study.Breast cancer research : BCR · 2025Article
- Association of ZWINT Expression with Clinicopathologic Characteristics and Prognosis in Breast Cancer Patients.Current medical science · 2025Article
- Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.NPJ genomic medicine · 2025Article
- Adjuvant Radiotherapy and Breast Cancer in Patients with Li-Fraumeni Syndrome: A Critical Review.Cancers · 2025Review
- Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.Hereditary cancer in clinical practice · 2025Article
- Different activity and toxicity of immunotherapy in monozygotic twins diagnosed with early triple-negative breast cancer: a case report.Therapeutic advances in medical oncology · 2025Article
- Non-genetic heterogeneity and immune subtyping in breast cancer: Implications for immunotherapy and targeted therapeutics.Translational oncology · 2024Article
- Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach.Scientific reports · 2024Article
- Breast Cancer Screening and Prophylactic Mastectomy for High-Risk Women in Romania.Medicina (Kaunas, Lithuania) · 2024Review
- Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne.Cancer medicine · 2024Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women.
methodsLiterature review of English language papers available through PubMed.
resultsWomen who carry germline mutations in the TP53 gene have a very high risk of breast cancer of up to 85% by age 60 years. Most of these breast cancers are early onset with a median age at diagnosis of 34 years. Approximately 5-8% of women presenting with breast cancer under 30 years old have a germline TP53 gene mutation. Breast cancers in women with TP53 mutations are more likely to be hormone receptor positive and/or Her2 positive. Mastectomy is recommended over lumpectomy in TP53 mutation carriers who have breast cancer so that adjuvant breast radiotherapy can be avoided. Risk-reducing surgery should be considered due to the high contralateral breast cancer risk. Mutation carriers are at high risk of various childhood and adult-onset cancers with a very lifetime risk of malignancy, the commonest malignancies being breast cancer and soft tissue sarcoma. In unaffected female mutation carriers, MRI breast screening or risk-reducing surgery is recommended. The optimal surveillance for other cancers is currently unclear and should ideally be performed as part of a clinical trial.
conclusionsIdentifying a TP53 mutation in a gene panel test is a challenging result for the patient and clinician due to the high risk of second primaries and the lack of consensus about surveillance.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.