ReviewThe American journal of pathology1997
Tumors associated with p53 germline mutations: a synopsis of 91 families.
Review in The American journal of pathology, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
130 citing papers in PubMed, 1 synthesis or guideline pooled it, 413 citations in OpenAlex.
- Choroid plexus tumours.British journal of cancer · 2002Pooled it
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- Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.Cancers · 2024Review
- Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.Frontiers in oncology · 2024Article
- Li-Fraumeni Syndrome-Associated Dimer-Forming Mutant p53 Promotes Transactivation-Independent Mitochondrial Cell Death.Cancer discovery · 2023Article
- Nervous system (NS) Tumors in Cancer Predisposition Syndromes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
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- Investigation of the relationship between immune checkpoints and mismatch repair deficiency in recurrent and nonrecurrent glioblastomaTurkish journal of medical sciences · 2021Article
- Association between Predicted Effects ofInternational journal of molecular sciences · 2021Article
- The Common GermlineCancer research · 2021Article
- Histopathologic features of breast cancer in Li-Fraumeni syndrome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Cancer spectrum in TP53-deficient golden Syrian hamsters: A new model for Li-Fraumeni syndrome.Journal of carcinogenesis · 2021Article
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- Pathology, diagnostics, and classification of medulloblastoma.Brain pathology (Zurich, Switzerland) · 2020Review
- GermlineJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Article
- Diagnostic Enigma: Spindle Cell Sarcoma of the Aorta Presenting as Pulmonary Embolism and Chronic Anaemia.European journal of case reports in internal medicine · 2020Article
- Site-Specific DNA Demethylation as a Potential Target for Cancer Epigenetic Therapy.Epigenetics insights · 2020Review
70 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
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although inherited p53 mutations are present in all somatic cells, malignant transformation is limited to certain organs and target cells. The analysis of 475 tumors in 91 families with p53 germline mutations reported since 1990 shows that breast carcinomas are most frequent (24.0%), followed by bone sarcomas (12.6%), brain tumors (12.0%), and soft tissue sarcomas (11.6%). The sporadic counterparts of these tumors also carry a high incidence of p53 mutations, suggesting that in these tissues p53 mutations are capable of initiating the process of malignant transformation. Hematological neoplasms (acute lymphoblastic leukemia and Hodgkin's lymphoma) and adrenocortical carcinomas occurred at a frequency of 4.2 and 3.6%, respectively. One-half of the families fulfilled the diagnostic criteria of the Li-Fraumeni syndrome. There were marked organ-specific differences in the mean age at which carriers of p53 germline mutations present with neoplastic disease: 5 years for adrenocortical carcinomas, 16 years for sarcomas, 25 years for brain tumors, 37 years for breast cancer, and almost 50 years for lung cancer. Analysis of the mutational spectrum showed a predominance of G:C-->A:T transitions at CpG sites, suggesting an endogenous formation, eg, by deamination of 5-methylcytosine, rather than a causation by environmental mutagenic carcinogens. The location of mutations within the p53 gene was found to be similar to that of somatic mutations in sporadic tumors. There is no evidence of an organ or target cell specificity of p53 germline mutations; the occasional familial clustering of certain tumor types is more likely to reflect the genetic background of the respective kindred or the additional influence of environmental and nongenetic host factors.
Indexed as
Identifiers
9006316PMC1858532W1938299812What OpenQuestion holds
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.