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Article

A constitutional de novo mutation in exon 8 of the p53 gene in a patient with multiple primary malignancies.

British journal of cancer - 1 Jul 1996

Speiser P, Gharehbaghi-Schnell E, Eder S, Haid A, Kovarík J, Nenutil R, Sauter G, Schneeberger C H, Vojtesek B, Wiltschke C H, Zeillinger R

Abstract excerpt

We report a constitutional point mutation of codon 278 in exon 8 of the TP53 gene that has not yet been described as a germ-line mutation. A 52-year-old female developed multiple primary malignancies (liposarcoma, breast cancer, malignant histiocytoma, occult adenocarcinoma). The mutation found in her tumour and peripheral blood lymphocyte DNA is a cytosine to thymine transition at the second position of codon...

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Identifiers

PMID: 8688334
DOI: 10.1038/bjc.1996.350
PMCID: PMC2074589

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Source receipt: pubmed, retrieved 7 Sept 2026.

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