{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T21:17:45Z","timestamp":1767993465576,"version":"3.49.0"},"reference-count":59,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T00:00:00Z","timestamp":1633305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Tropical Med Int Health"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Germline mutations of the <jats:italic>TP53<\/jats:italic> tumour suppressor gene are the only known cause of the hereditary autosomal disorder called Li\u2010Fraumeni syndrome (LFS). However, little information is available about <jats:italic>TP53<\/jats:italic> pathogenic variants in Asian LFS patients, making it difficult to provide precise genetic counselling with regard to long\u2010term cancer risk. We conducted a systematic review to gather relevant case\u2013control studies exploring the association between <jats:italic>TP53<\/jats:italic> polymorphisms and the incidence of cancer belonging to the LFS spectrum in Asian populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Systematic review and meta\u2010analysis. The odds ratio was used as a summary effect measure to quantify the strength of the association between <jats:italic>TP53<\/jats:italic> polymorphisms and cancer risk by means of random\u2010effects meta\u2010analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, 16 studies were included in this systematic review, with 13 studies (involving 10,645 cases and 28,288 controls) that enabled meta\u2010analysis. The majority of the studies focused on a single\u2010nucleotide variation at codon 72 in exon 4 (c.215C&gt;G, p.Arg72Pro, rs1042522). Therefore, we tested either dominant, co\u2010dominant, recessive, or heterozygous models and found that the p.Arg72Pro was not significantly associated with increased cancer risk in any of the models.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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\u2010analysis approach is somewhat useful to identify germline <jats:italic>TP53<\/jats:italic> mutations as potential markers of hereditary cancer associated with LFS in Asian populations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/tmi.13673","type":"journal-article","created":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T17:07:43Z","timestamp":1630688863000},"page":"1401-1410","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["In search of <i>TP53<\/i> mutational hot spots for Li\u2010Fraumeni syndrome in Asian populations"],"prefix":"10.1111","volume":"26","author":[{"given":"Luca","family":"Lo Piccolo","sequence":"first","affiliation":[{"name":"Omics Center for Health Science Faculty of Medicine Chiang Mai University Muang, Chiang Mai Thailand"},{"name":"Musculoskeletal Science and Translational Research Center Chiang Mai University Muang, Chiang Mai 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