Ser-249 TP53 mutation in tumour and plasma DNA of hepatocellular carcinoma patients from a high incidence area in the Gambia, west Africa

Katarzyna Szymánska, Olufunmilayo A. Lesi, Gregory D Kirk, Omar Sam, Philippe Taniere, Jean Yves Scoazec, Maimuna Mend, Marlin D. Friesen, Hilton Whittle, Ruggero Montesano, Pierre Hainaut

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Hepatocellular carcinoma (HCC) is frequent in areas of high exposure to aflatoxin and high prevalence of HBV infection, such as western Africa and south-east China. A selective mutation in TP53 (AGG→AGT at codon 249, Arg→Ser) has been identified as a hotspot in HCCs from such areas, reflecting DNA damage caused by aflatoxin metabolites. Recent studies have shown that circulating free DNA can be retrieved from human plasma, and it is hypothesised that plasma DNA may serve as a source for biomarkers of tumorigenic processes. In our study, we have determined the prevalence of Ser-249 mutation, using a PCR-restriction digestion method, with selective use of short oligonucleotide mass spectrometry analysis (SOMA), in a series of 29 biopsy specimens of HCC from The Gambia in West Africa. Overall, we identified the Ser-249 mutation in 35% (10/29) of the tumours. In parallel, we tested 17 plasma samples from HCC patients with matching tumour tissue. The 249 status concordance between tumour tissues and matched plasma was 88.5%. These results indicate that the Ser-249 mutation is common in HCC in The Gambia (35%), although a higher prevalence has been reported in other regions with high population exposure to aflatoxin (e.g., eastern China: >50%). Moreover, our studies indicate that plasma is a convenient source of liver tumour-derived DNA, thus holding promise for earlier detection and diagnosis of cancer.

Original languageEnglish (US)
Pages (from-to)374-379
Number of pages6
JournalInternational Journal of Cancer
Issue number3
Publication statusPublished - Jun 20 2004
Externally publishedYes



  • Aflatoxin
  • Circulating free DNA
  • Hepatocellular carcinoma
  • Plasma
  • Ser-249 TP53
  • The Gambia

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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