Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li–Fraumeni syndrome
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Summary
The p53 gene in a family affected by Li–Fraumeni syndrome, a rare autosomal dominant syndrome characterized by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites, had the same point mutation in codon 245 (GGC→GAC), which leads to substitution of aspartic acid for glycine in one of the regions identified as a frequent target of point mutations in p53.
- Type
- article
- Published
- 1990-12-01
- Cited by
- 1,274
- References
- 25
- OpenAlex
- https://openalex.org/W2046780997
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4234370
Keywords
Li–Fraumeni syndrome, Point mutation, Biology, Mutation, Genetics
References
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Cited by
- Genetik des Aderhautmelanoms
- DNA restriction enzymes and RFLPs in medicine.
- Tumor suppressor genes.
- Molecular biological aspects of soft tissue tumors.
- Inherited breast cancer.
- Lymphocyte death, p53, and the problem of the "undead" cell.
- The tumor suppressor p53 modifies mutational processes in a human lymphoblastoid cell line.
- Cell cycle control, checkpoint mechanisms, and genotoxic stress.
- Normal and malignant growth control by p53.
- Identification of Rad51 alteration in patients with bilateral breast cancer
- Adult-onset calorie restriction and fasting delay spontaneous tumorigenesis in p53-deficient mice.
- Novel oncogene amplifications in tumors from a family with Li–Fraumeni syndrome
- TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset
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- The Role of P53 in Human Cancer
- Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.
- Molecular genetics of human malignant melanoma.
- Molecular biological studies on soft tissue sarcomas.
- In vivo studies of repressors of RNA polymerase III transcription
- Analyzing the G2/M checkpoint.
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