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dc.contributor.authorLuca Lo Piccoloen_US
dc.contributor.authorSalinee Jantrapiromen_US
dc.contributor.authorSutpirat Moonmuangen_US
dc.contributor.authorPimpisa Teeyakasemen_US
dc.contributor.authorArnat Pasenaen_US
dc.contributor.authorPathacha Suksakiten_US
dc.contributor.authorPimlak Charoenkwanen_US
dc.contributor.authorDumnoensun Pruksakornen_US
dc.contributor.authorNut Koonrungsesomboonen_US
dc.description.abstractObjective: Germline mutations of the TP53 tumour suppressor gene are the only known cause of the hereditary autosomal disorder called Li-Fraumeni syndrome (LFS). However, little information is available about TP53 pathogenic variants in Asian LFS patients, making it difficult to provide precise genetic counselling with regard to long-term cancer risk. We conducted a systematic review to gather relevant case–control studies exploring the association between TP53 polymorphisms and the incidence of cancer belonging to the LFS spectrum in Asian populations. Method: Systematic review and meta-analysis. The odds ratio was used as a summary effect measure to quantify the strength of the association between TP53 polymorphisms and cancer risk by means of random-effects meta-analysis. Results: In total, 16 studies were included in this systematic review, with 13 studies (involving 10,645 cases and 28,288 controls) that enabled meta-analysis. The majority of the studies focused on a single-nucleotide variation at codon 72 in exon 4 (c.215C>G, p.Arg72Pro, rs1042522). Therefore, we tested either dominant, co-dominant, recessive, or heterozygous models and found that the p.Arg72Pro was not significantly associated with increased cancer risk in any of the models. Conclusion: We found the number of studies on cancers belonging to the LFS spectrum in Asia is very small. Thus, at the present time a meta-analysis approach is somewhat useful to identify germline TP53 mutations as potential markers of hereditary cancer associated with LFS in Asian populations.en_US
dc.subjectImmunology and Microbiologyen_US
dc.titleIn search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populationsen_US
article.title.sourcetitleTropical Medicine and International Healthen_US
article.volume26en_US Mai Universityen_US
Appears in Collections:CMUL: Journal Articles

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