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Eeles, R. A., Warren, W., Knee, G., Bartek, J., Averill, D., Stratton, M. R., Blake, P. R., Tait, D. M., Lane, D. P., Easton, D. F., Yarnold, J. R., Cooper, C. S. 
ORCID: https://orcid.org/0000-0003-2013-8042 and Sloane, J. P.
(1993)
Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours:Molecular and immunohistochemical findings.
Oncogene, 8 (5).
pp. 1269-1276.
ISSN 0950-9232
Abstract
We report a constitutional mutation of codon 273 in exon 8 of the p53 gene. The affected individual has developed multiple independent benign and malignant tumours (tricholemmoma of the scalp, multiple tricho-epitheliomata of the face, osteosarcoma of the ovary, bilateral breast cancer, maligant fibrous histiocytoma of the thigh and endometrial adenocarcinoma) and belongs to a family with some, but not all, features of the Li-Fraumeni syndrome. The mutation, found in both blood lymphocyte and tumour specimens, is a cytosine to thymine transition at codon 273, resulting in an amino acid change from arginine to cysteine. The mother and sister of the index case both died of tumours at an early age. We have demonstrated that formalin-preserved material from these tumours contains the same C → T mutation at codon 273, indicating that this mutation has probably been transmitted through the germline. All tumours from the index case, both benign and malignant, showed immunohistochemical positivity with four antibodies to the p53 protein. Positive staining was also seen in scattered nuclei of morphologically normal epidermal keratinocytes and pilosebaceous cells, but not in lymphocytes or other morphologically normal cells from the index case. However, a similar staining pattern in apparently normal tissue was also observed in 13/48 sections from other individuals with various skin conditions (melanocytic naevi, psoriasis and normal skin adjacent to malignant melanoma and fibrous histiocytomas), suggesting that this pattern of p53 staining may not be unique to individuals with constitutional p53 mutations.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | molecular biology,genetics,cancer research,sdg 3 - good health and well-being ,/dk/atira/pure/subjectarea/asjc/1300/1312 |
| Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
| UEA Research Groups: | Faculty of Medicine and Health Sciences > Research Groups > Cancer Studies |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 18 Jul 2022 17:30 |
| Last Modified: | 23 Oct 2022 04:02 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/86522 |
| DOI: |
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