ArticleClinical cancer research : an official journal of the American Association for Cancer Research2007
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 55 citations in OpenAlex.
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- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- Review
- Partial p53 reactivation is sufficient to induce cancer regression.Journal of experimental & clinical cancer research : CR · 2022Article
- Seventeen primary malignant neoplasms involving the skin, ovary, esophagus, colon, oral cavity, and ear canal: a case report and review of the literature.Clinical journal of gastroenterology · 2021Review
- Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.Geburtshilfe und Frauenheilkunde · 2020Article
- A Protein in the YeastBiomolecules · 2020Article
- Heterogeneity ofFrontiers in oncology · 2020Review
- Genotype-phenotype associations among panel-based TP53+ subjects.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.Human mutation · 2018Article
- The molecular landscape of synchronous colorectal cancer reveals genetic heterogeneity.Carcinogenesis · 2018Article
- Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.BMC cancer · 2018Article
- Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.NPJ genomic medicine · 2018Article
- TP63 mutations are frequent in cutaneous melanoma, support UV etiology, but their role in melanomagenesis is unclear.Oncology reports · 2017Article
- p53, p63 and p73 in the wonderland ofOncotarget · 2017Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeThe TP53 tumor suppressor gene encodes a sequence-specific transcription factor that is able to transactivate several sets of genes, the promoters of which include appropriate response elements. Although human cancers frequently contain mutated p53, the alleles as well as the clinical expression are often heterogeneous. Germ line mutations of TP53 result in cancer proneness syndromes known as Li-Fraumeni, Li-Fraumeni--like, and nonsyndromic predisposition with or without family history. p53 mutants can be classified as partial deficiency alleles or severe deficiency alleles depending on their ability to transactivate a set of human target sequences, as measured using a standardized yeast-based assay (see http://www.umd.be:2072/index.html). We have investigated the extent to which the functional features of p53 mutant alleles determine clinical features in patients who have inherited these alleles and have developed cancer. EXPERIMENTAL
designWe retrieved clinical data from the IARC database (see http://www.p53.iarc.fr/Germline.html) for all cancer patients with germ line p53 mutations and applied stringent statistical evaluations to compare the functional classification of p53 alleles with clinical phenotypes.
resultsOur analyses reveal that partial deficiency alleles are associated with a milder family history (P = 0.007), a lower numbers of tumors (P = 0.007), and a delayed disease onset (median, 31 versus 15 years; P = 0.007) which could be related to distinct tumor spectra.
conclusionsThese findings establish for the first time significant correlations between the residual transactivation function of individual TP53 alleles and clinical variables in patients with inherited p53 mutations who develop cancer.
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